Epilepsy with Myoclonic Absences — Research Report

(a.k.a. Tassinari syndrome, EMA. MONDO:0019487)

sup. Quick framing before the wall of text: this one is a weird little disease. Most absence epilepsies are a brain that briefly goes quiet — the lights flicker, the kid stares, it's over. EMA is a brain that goes quiet and starts drumming at the same time. Same 3-beats-per-second rhythm you see in ordinary childhood absence, but here that rhythm leaks out into the muscles and you can literally watch it: the arms ratchet upward, jerk by jerk, in lockstep with the brainwave. It's the one absence syndrome where the electrical signature is visible from across the room.

That "leak into the motor system" is basically the whole mechanistic story, and it's also the biggest open question in the field.

One caveat up front, stated plainly: EMA is rare enough that there is no large prospective cohort anywhere. Everything below rests on case series of 7–12 patients, a handful of single-case genetic reports, and one 2017 imaging study with two subjects. I've flagged sample sizes throughout because they matter a lot here. Anything I couldn't verify against a real abstract or ontology lookup, I've marked as unverified rather than smoothing it over.

1. Disease Information

What it is

EMA is a rare, childhood-onset generalized epilepsy syndrome whose defining seizure is the myoclonic absence — an impairment-of-awareness spell with rhythmic bilateral jerking of the shoulders and arms, superimposed on a slowly building tonic pull that ratchets the arms up and outward.

MONDO's definition (sourced from Orphanet:86911), verified via local OAK lookup:

"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders."

Historically, Tassinari and colleagues described the seizure type in 1969–70 (PMID:4985251, Rev Neurol Paris; PMID:4194033, Electroencephalogr Clin Neurophysiol — "Studies on spike and wave discharges in man. II. Clinical and EEG aspects of myoclonic absences"), and Tassinari named the syndrome in 1985. Hence "Tassinari syndrome."

The 2025 review by Tang et al. (PMID:40380288) states verbatim:

"Epilepsy with myoclonic absence (EMA) is a rare childhood-onset generalized epilepsy syndrome characterized by myoclonic absence seizures. First discovered by Tassinari et al. in 1969, EMA has been extensively studied by researchers from all over the world."

Identifiers (OAK-verified against local sqlite:obo:mondo)

MONDO parentage: is_a MONDO:0005395 (movement disorder) and is_a MONDO:0800498 (childhood-onset genetic generalized epilepsy syndrome). That dual parentage is actually a nice bit of curation — it encodes the "absence + movement" hybrid nature.

Not available / flagged: there is no dedicated OMIM entry for EMA as a syndrome. It's a clinically-defined electroclinical syndrome, not a Mendelian gene-disease pair, so OMIM entries only exist for the individual gene disorders that can present as EMA (SYNGAP1, SETD1B, SLC2A1, GLUD1, CREBBP). I could not verify a specific ICD-10 code from an authoritative source in this session — do not populate ICD-10 from memory; Orphanet's mapping page was behind a bot check.

Synonyms

• Epilepsy with myoclonic absences (EMA) — preferred
• Myoclonic absence epilepsy (MAE — careful, this abbreviation collides with myoclonic-astatic epilepsy / Doose syndrome; a real named-entity-confusion trap)
• Tassinari syndrome
• MONDO records "EMA" EXACT

Data provenance

Aggregated disease-level, entirely. There is no EHR-derived or registry-derived population data for EMA that I could find — the evidence base is single-center retrospective chart reviews plus case reports. No OMOP/OHDSI phenotype algorithm exists for it.

2. Etiology

The honest summary

Tang et al. 2025 (PMID:40380288), verbatim:

"Overall, the etiology of EMA remains unclear and appears to be heterogeneous, categorized into idiopathic, symptomatic and cryptogenic forms."

Think of EMA less as a disease with a cause and more as a final common pathway — a particular way a child's thalamocortical circuit can misfire, reachable from many different genetic starting points. Like a fever: lots of upstream causes, one recognizable downstream output.

Roughly one-third of cases are idiopathic (myoclonic absences only, normal MRI, normal EEG background, better outcome); two-thirds are symptomatic or have additional seizure types (Tang 2025).

Genetic risk factors

Family history of epilepsy in 20–25% of EMA patients (Tang 2025). In the Videira 2023 series (PMID:36893512), only 2/7 had a positive family history. Sibling cases exist (Cherian 2014, PMID:24491945, "Epilepsy with myoclonic absences in siblings"), which points at a heritable component without a clean Mendelian pattern.

Single-gene and chromosomal findings reported in EMA — each of these is a case report or small series, not an established gene-disease association:

Key verbatim quotes:

Klitten 2011 (PMID:22050443):

"the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1... This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA."

Hiraide 2019 (PMID:31440728):

"Therefore, this report supports the indication that SETD1B may be a causative gene for neurodevelopmental disorders and suggests that epilepsy with myoclonic absences may be a characteristic feature of SETD1B-related disorders."

Gökben 2011 (PMID:21546317):

"Although typical absences are frequent in GLUT1DS, myoclonic absence seizures are rarely reported. Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering."

Bahi-Buisson 2008 (PMID:18321734):

"The mother, brother and both sisters had myoclonic absence seizures, but only the mother and one sister had the complete HI/HA pattern."

The broader genetic landscape of absence epilepsies (Balestrini et al., Epilepsia 2026, doi:10.1111/epi.18655) identifies SLC2A1, SLC6A1, SYNGAP1, CHD2, SCN1A as the most frequent monogenic causes across absence-featuring epilepsies, with CACNA1A also implicated. That paper reports hyperventilation as a precipitant across CACNA1A, GABRA2, GABRG2, SETD1B, SLC2A1, SLC6A1, and SYNGAP1 variants, and notes atypical absences were most common with SYNGAP1 (n=9).

Environmental / acquired risk factors

Tang 2025:

"Symptomatic EMA is associated with factors including prematurity, perinatal damage, consanguineous marriage, and congenital hemiparesis."

Older literature (via MedLink secondary summary, unverified against primary source) puts etiological factors in ~35% of cases: prematurity, perinatal damage, consanguinity, congenital hemiparesis, chromosomal anomalies.

Sex is a genuine risk factor: male predominance ~70% (Tang 2025; epilepsydiagnosis.org). Though note the cohorts disagree — Zanzmera 2016 was 50% male, Videira 2023 was 7/7 male, Hu 2025 was 7:4. Small-n noise.

Seizure precipitants (not disease-risk factors, but seizure-trigger factors — worth keeping distinct): - Hyperventilation - Awakening - Intermittent photic stimulation: 14% of myoclonic absences are IPS-inducible (Tang 2025)

Protective factors

Not available. No protective genetic variants or lifestyle protective factors have been reported for EMA. Given the rarity, no GWAS exists.

Gene–environment interactions

Largely not available. The one real example: in GLUT1 deficiency, the environmental variable is dietary — fasting and carbohydrate state modulate seizures, and the ketogenic diet is directly therapeutic because it bypasses the broken glucose transporter. That's a genuine G×E axis (SLC2A1 genotype × dietary substrate), and it's actionable.

3. Phenotypes

The core seizure — myoclonic absence

HP:0011150 — Myoclonic absence seizure (OAK-verified). This is mandatory for the diagnosis under ILAE 2022.

What it looks like, per Tang 2025:

"The severity of impaired consciousness is usually milder than that in childhood absence epilepsy (CAE), however, the seizure duration (ranging from 8–60 s) exceeds that of CAE"

"The tonic element affecting both shoulders is often present in myoclonus, leading to rigid abduction and elevation of the upper limbs"

"Rhythmic myoclonic seizures primarily affect the shoulder and limb muscles with rare eyelid involvement"

The mechanical picture: the jerks are the fast beat, the tonic contraction is a slow steady pull underneath, and because the jerks ride on top of a rising tonic baseline, the arms climb upward in a ratcheting staircase over the course of the seizure. Like a socket wrench — each click advances and holds.

Videira 2023 (PMID:36893512, n=7): "All patients had seizures with impairment of awareness accompanied by bilateral rhythmic myoclonus of the proximal segments of the upper limbs, followed by arm abduction," asymmetrical in 4/7, duration 4–60 s, all with ≥2 seizures/day.

Hu 2025 (PMID:40414191, n=11): 4/11 (36.36%) had asymmetrical features.

Frequency: multiple daily, "ranging from several to dozens" per day (Tang 2025), abrupt onset and offset.

Cognitive trajectory — the part that actually hurts

Tang 2025, summarizing Tassinari's follow-up of 28 patients:

"13 exhibited intellectual impairment before or at MA onset, while 15 initially showed normal intelligence—of these, 8 remained normal throughout the evolution but 7 developed significant mental deterioration during disease progression. Overall, 20 patients (including 13 with pre-existing and 7 with acquired impairment) ultimately exhibited cognitive deficits, presenting a markedly different neurodevelopmental trajectory compared to childhood absence epilepsy."

And the sting in the tail:

"Although seizures may gradually diminish over time, the accompanying cognitive deficits frequently persist, and complete functional recovery is rarely achieved."

"In most children with drug-resistant EMA, the severity of cognitive decline is proportional to the duration of intractable epilepsy."

That last one is the clinically actionable claim in the whole report: time-with-uncontrolled-seizures appears to be the dose. It argues for aggressive early control. It's also an observational correlation from a small series and could easily be confounded by severity — worth curating as a hypothesis, not a fact.

Unusual presentations worth knowing

Complex gestural automatisms — Myers & Scheffer 2018 (PMID:29325826):

"complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle... Complex automatisms have not been described in myoclonic absence seizures. This generalized seizure type can be confused with focal seizures when these ictal behaviours occur."

Focal seizures in EMA: Çetin 2016, PMID:27596001, "A rare finding in epilepsy with myoclonic absences: focal seizure."

Quality of life

Not available as measured data. No EQ-5D, SF-36, PROMIS, or QOLCE data specific to EMA exists that I could find. Impact is inferable from the seizure burden (dozens daily) plus the cognitive/behavioral comorbidity load, but nobody has measured it. This is a real gap.

4. Genetic / Molecular Information

Causal genes

There is no single causal gene. What exists is a set of genes in which individual patients have presented with an EMA phenotype. Curate these as relationship_type: CAUSATIVE only for the specific reported cases, and consider SUSCEPTIBILITY/MODIFIER framing for the syndrome as a whole.

* HGNC IDs above are from memory and were NOT verified with OAK in this session. Verify each with just validate-terms before committing any of them to a KB entry. Note this repo uses lowercase hgnc:.

Mechanistic notes per gene

SYNGAP1 — sits in the postsynaptic density and acts as a brake on Ras signaling downstream of NMDA receptors. Lose one copy and excitatory synapses mature too early and too strong. Relevant GO: GO:0098989 (NMDA selective glutamate receptor signaling pathway), GO:0050803 (regulation of synapse structure or activity). Note Klitten's framing that "Two-thirds of the patients described so far also have generalized epilepsy."

SETD1B — writes the H3K4 methyl mark, an activating chromatin tag. Relevant GO molecular function: GO:0042800 (histone H3K4 methyltransferase activity). Careful: GO:0051568 "histone H3-K4 methylation" is obsolete in current GO — don't use it.

SLC2A1 / GLUT1 — Tang 2025 describes it as "mainly expressed in endothelial cells and astrocytes of the blood-brain barrier, facilitates glucose transport across the blood-brain barrier into astrocytes to provide energy for the brain." Relevant GO: GO:1904659 (D-glucose transmembrane transport), GO:0098708 (D-glucose import across plasma membrane), GO:0006006 (glucose metabolic process). All OAK-verified. Diagnostic corollary: low CSF glucose / low CSF:blood glucose ratio, and it's treatable with ketogenic diet — this is the one genotype where finding it changes management immediately.

GLUD1 / GDH — a gain-of-function, which is unusual in this list. Tang 2025 describes it as "Enhanced glutamate dehydrogenase's function, increasing oxidative deamination of glutamate and elevating levels of α-ketoglutaric acid and ammonia." Chronic hyperammonemia plus recurrent hypoglycemia plus depleted brain glutamate → a plausible triple hit on cortical excitability. Note this family was also photosensitive, which is a phenotype marker worth tracking.

Variant classification / allele frequency / somatic vs germline

• All reported variants are germline, mostly de novo. GLUD1 was dominantly inherited through a family.
• ACMG classification: individually reported as pathogenic/likely pathogenic in their source papers; I did not query ClinVar directly this session, so treat per-variant classifications as unverified.
• Allele frequencies: not available. These are private/de novo variants; gnomAD frequencies would be zero or absent. Not a meaningful field here.

Modifier genes

Not available. No modifier gene has been identified for EMA.

Epigenetic information

Indirect but real: SETD1B (H3K4 methyltransferase) and CREBBP (histone acetyltransferase) are both chromatin writers, and 15q11.2 / inv dup(15) sits in an imprinted region with maternal-origin effects. So chromatin-level regulation shows up three separate ways in this small gene list, which is suggestive. No direct methylome study of EMA patients exists (no ENCODE/Roadmap/DiseaseMeth data specific to EMA).

Chromosomal abnormalities

Genuinely a recurring theme — Elia 1998 (PMID:9545186) argued this explicitly:

"Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy."

Reported: trisomy 12p; 2q13 recurrent microdeletion; maternal 15q11.2 microdeletion; inverted duplication of chromosome 15. Practical implication: chromosomal microarray belongs in the EMA workup, not just a gene panel.

5. Environmental Information

• Environmental toxins / radiation / occupational exposure: not applicable / not reported.
• Infectious agents: not applicable. EMA is not infection-triggered.
• Perinatal factors: prematurity and perinatal brain injury are reported as antecedents in symptomatic EMA (Tang 2025). These are the closest thing to an environmental exposure in this disease.
• Consanguinity: reported as an associated factor (Tang 2025), which is really a genetic-architecture signal (recessive burden) wearing an environmental costume.
• Lifestyle: the only lifestyle variable with mechanistic weight is diet, and only in the GLUT1-deficiency subgroup, where carbohydrate/ketone state directly modulates brain fuel supply.
• Iatrogenic aggravation — this is environmental in the practical sense and it matters: several antiseizure drugs worsen EMA. Tang 2025: "Carbamazepine, phenytoin, vigabatrin, gabapentin, and tiagabine should be avoided due to their potential to exacerbate seizures." Levetiracetam aggravation of absence seizures is also documented (Auvin 2011, PMID:21680209) — which is awkward, because levetiracetam is also listed as a second-line option. Genuine tension in the literature; curate both directions.

6. Mechanism / Pathophysiology

The causal chain, as best anyone knows it

Here's the story in plain terms. There's a three-way loop in the brain — cortex talks to thalamus, thalamus talks back to cortex, and a thin shell of inhibitory cells called the thalamic reticular nucleus wraps around the thalamus and gates the whole conversation. Normally that loop does useful rhythmic things (it's the machinery behind sleep spindles). In absence epilepsy it slips into a pathological resonance and starts ringing at 3 cycles per second, and consciousness drops out while it rings.

Tang 2025, verbatim:

"Previous experimental studies have confirmed that the activation of a neural loop—including the cerebral cortex, thalamic reticular nucleus and thalamus—produces the 3 Hz spike-slow wave in absence seizures."

Then EMA does the extra thing. The central unsolved question, stated by Tang 2025:

"A key unresolved question is why motor symptoms (e.g., myoclonus) are prominent in EMA but absent in typical absence epilepsy."

Their proposed model:

"Given these observations, it is plausible that in EMA, the 3 Hz spike-waves generated by the thalamocortical loop likely excessively drive the motor cortex, especially the precentral gyrus, leading to simultaneous occurrence of myoclonus."

So: same oscillator, but the motor strip is unusually strongly coupled into it, and each cycle of the oscillation discharges down the corticospinal tract as a jerk. The 3 Hz rhythm stops being purely an internal brain event and becomes a motor command.

The one piece of direct human evidence

Ikeda et al. 2018 (PMID:28823645), ictal SPECT with 99mTc-ECD in two patients (ages 4 and 8):

• Patient 1: increased perfusion in "perirolandic areas, thalamus, caudate nucleus, and precuneus"; decreased in frontal and orbitofrontal regions
• Patient 2: increased in "thalamus, putamen, and globus pallidus"; decreased precuneus

Conclusion, verbatim:

"in addition to the thalamus and basal ganglia, the perirolandic cortical motor area is involved in MAs"

That's the empirical anchor for the motor-cortex-recruitment model. n=2. Please curate it with that caveat attached — it is a suggestive finding, not a demonstrated mechanism.

Proposed causal chain for a pathograph

Upstream → downstream:

1. Genetic or chromosomal lesion (MOLECULAR) — SYNGAP1/SETD1B/SLC2A1/GLUD1 LoF or GoF, or a CNV. Sets the excitability baseline.
2. Altered synaptic excitation/inhibition balance (MOLECULAR/CELLULAR) — GO:0007268 chemical synaptic transmission, GO:0060080 inhibitory postsynaptic potential, GO:0007214 GABA signaling pathway, GO:0070588 calcium ion transmembrane transport (T-type Ca²⁺ currents in thalamic relay cells are the classic absence substrate).
3. Thalamocortical loop enters hypersynchronous 3 Hz resonance (TISSUE) — cortex UBERON:0016529, thalamus UBERON:0001897, thalamic reticular nucleus UBERON:0001903. Process: GO:0042391 regulation of membrane potential, GO:0019228 neuronal action potential.
4. Impairment of awareness (ORGANISM) — the classic absence output; note it's milder than CAE here.
5. Cycle-locked recruitment of primary motor cortex (TISSUE) — UBERON:0001384 primary motor cortex; the EMA-specific branch.
6. Rhythmic 3 Hz myoclonus + progressive tonic contraction (ORGANISM) — the visible seizure.
7. Chronic high seizure burden → cognitive deterioration (ORGANISM) — in the drug-resistant subset.

This maps cleanly onto the existing epilepsy_excitation_inhibition_imbalance module in this repo. Key conformance target: epilepsy_excitation_inhibition_imbalance#Excitation-Inhibition Imbalance. EMA's distinctive contribution — the thing worth not pushing into the module — is step 5, the motor-cortex recruitment branch.

Cell types involved (CL, OAK-verified)

• CL:0000679 glutamatergic neuron — corticothalamic and thalamocortical projections
• CL:0000617 GABAergic neuron — thalamic reticular nucleus inhibitory shell
• CL:0000598 pyramidal neuron — cortical output, including motor cortex
• CL:4023068 thalamic excitatory neuron — relay cells; T-type Ca²⁺ burst firing
• CL:4023013 corticothalamic-projecting glutamatergic cortical neuron — the cortical arm of the loop
• CL:0008031 cortical interneuron
• CL:0000127 astrocyte — specifically relevant in the GLUT1 subgroup (astrocytes at the BBB are where GLUT1 does its work)

Anatomy (UBERON, OAK-verified)

UBERON:0000955 brain · UBERON:0001897 dorsal plus ventral thalamus · UBERON:0001903 thalamic reticular nucleus · UBERON:0001384 primary motor cortex · UBERON:0016529 cortex of cerebral lobe · UBERON:0002420 basal ganglion · UBERON:0001873 caudate nucleus · UBERON:0001874 putamen · UBERON:0002435 striatum · UBERON:0006093 precuneus cortex

Metabolic changes

Only in specific genetic subgroups: - GLUT1DS: impaired glucose flux across the blood-brain barrier → chronic brain energy deficit → low CSF glucose. GO:1904659 D-glucose transmembrane transport. - GLUD1/HI-HA: elevated α-ketoglutarate and ammonia, plus episodic hypoglycemia. Chronic hyperammonemia is independently neurotoxic (astrocyte glutamine osmole swelling — same logic as the metabolic_intoxication_decompensation module here, though EMA is not an intoxication-type IEM).

Immune involvement, tissue damage, fibrosis, oxidative stress

Not applicable. EMA is a circuit-function disorder, not a tissue-destruction disorder. Brain MRI is normal in idiopathic EMA. There is no inflammatory, autoimmune, or degenerative component described.

Molecular profiling / advanced technologies

Not available. No transcriptomics, proteomics, metabolomics, lipidomics, single-cell, spatial, or CRISPR-screen data specific to EMA. Nothing in GEO/ArrayExpress/PRIDE/MetaboLights for this syndrome. Genuinely unstudied at the omics level — unsurprising for a syndrome this rare with no reliable animal model.

7. Anatomical Structures Affected

• Body system: nervous system, exclusively. No multi-organ involvement.
• Primary organ: brain (UBERON:0000955)
• Primary circuit: thalamocortical loop — thalamus (UBERON:0001897), thalamic reticular nucleus (UBERON:0001903), cerebral cortex (UBERON:0016529)
• EMA-distinctive site: primary motor cortex / perirolandic region (UBERON:0001384)
• Secondary involvement: basal ganglia (UBERON:0002420) — caudate, putamen, globus pallidus; precuneus (UBERON:0006093) — per Ikeda 2018 SPECT
• Effector (not lesioned, just driven): proximal upper-limb musculature, especially deltoid. This is where the polygraphy lands its electrodes. Iyer 2017 (PMID:28366625) titled a paper "Proximal Upper Limb Jerking" precisely as a diagnostic sign.

Subcellular: no specific compartment pathology. The action is at the synapse and the plasma membrane (ion channels, glutamate receptors, GLUT1 transporter) rather than in an organelle. For GLUT1DS the relevant compartment is the plasma membrane of BBB endothelium and astrocytes.

Lateralization: classically bilateral and symmetric — that's part of the definition. But asymmetry is common enough to be a recognized variant: 4/7 in Videira 2023, 4/11 (36%) in Hu 2025, and Ogawa's 2q13 case presented specifically with unilateral jerks (PMID:36796225). Asymmetry should not by itself exclude the diagnosis, though it should prompt harder for a structural or chromosomal cause.

8. Temporal Development

Onset

• Range: 6 months to 12.5 years (Tang 2025); epilepsydiagnosis.org gives 1–12 years
• Peak: ~7 years
• Cohort means: 3.5 y (Zanzmera 2016, n=12) · 5.2 y, range 3–8 (Videira 2023, n=7) · 7.18 ± 3.72 y (Hu 2025, n=11)
• Pattern: subacute — seizures start at multiple-per-day frequency fairly quickly
• Tang 2025: "No cases of EMA with adult onset have been reported thus far" — a clean exclusionary criterion
• HPO onset terms: HP:0011463 Childhood onset (primary); HP:0003593 Infantile onset (for the earliest cases)

Course

Tang 2025:

"patients with EMA may continue experiencing MA attacks for up to 10 years after onset, with seizures typically subsiding after 4 years on average. Notably, EMA can evolve into LGS in some individuals."

Course pattern: episodic seizures on a chronic background, with two divergent trajectories:

1. Idiopathic branch (~1/3): myoclonic absences only, normal MRI and EEG background, good drug response, eventual remission, cognition preserved.
2. Symptomatic branch (~2/3): additional seizure types (especially GTCS), drug resistance, cognitive decline, possible evolution to Lennox-Gastaut syndrome.

The fork is decided early and mostly by whether GTCS are present. Tang 2025:

"The course of EMA mainly depends on the existence of GTCS, regardless of encephalopathic features (such as psychomotor retardation, hemiparesis and behavioral disorders) or treatment timing."

Worth flagging: that last clause — "regardless of... treatment timing" — sits in direct tension with the claim elsewhere in the same review that cognitive decline is proportional to duration of intractable epilepsy. That's a real, curatable contradiction in the literature. Recommend a KNOWLEDGE_GAP discussion on it.

Remission

~40% remit (epilepsydiagnosis.org; consistent with Hu 2025's 45.45% seizure-free at 15–44 months follow-up). Remission is largely treatment-associated rather than clearly spontaneous, though the natural-history data can't cleanly separate the two.

Critical periods

The implied intervention window is early: if seizure duration drives cognitive outcome, then the first months after onset are the window that matters. This is an inference from observational data, not a tested claim.

9. Inheritance and Population

Epidemiology

• Share of epilepsy: "EMA accounts for 0.5–1% of total epilepsy patients" (Tang 2025). Note this phrasing is a proportion of epilepsy patients, not a population prevalence — don't convert one into the other.
• Population prevalence / incidence: not available. No population-based estimate exists. Orphanet lists it as rare (subset: rare, orphanet_rare) but I could not retrieve a numeric prevalence class this session — the Orphanet page was behind a bot check and there's no ORPHA_86911.md in this repo's reference cache.

For a dismech Prevalence block, the honest fill is prevalence_class: NOT_YET_DOCUMENTED or UNKNOWN with the 0.5–1%-of-epilepsy figure in notes, not converted to a rate.

Inheritance

• Not Mendelian at the syndrome level. Most cases are sporadic.
• Family history of epilepsy in 20–25%, suggesting polygenic/multifactorial susceptibility — consistent with the broader genetic generalized epilepsies.
• Individual genetic causes: de novo autosomal dominant (SYNGAP1, SETD1B, CREBBP, SLC2A1 usually) or inherited autosomal dominant (GLUD1 family in Bahi-Buisson 2008). HPO: HP:0000006 Autosomal dominant inheritance.
• Sibling recurrence reported (Cherian 2014, PMID:24491945) — consistent with either recessive inheritance in consanguineous families or shared polygenic load. HP:0000007 Autosomal recessive inheritance may apply in the consanguinity-associated subgroup.
• Penetrance, expressivity: the GLUD1 family is instructive on expressivity — all four had myoclonic absences but only two had the full HI/HA metabolic phenotype, and the mother's EEG was normal without photosensitivity. So: variable expressivity, clearly.
• Anticipation: not applicable (no repeat expansion).
• Germline mosaicism: not reported.
• Founder effects, carrier frequency: not applicable / not available.

Demographics

• Sex ratio: male-predominant, ~70% male (Tang 2025; epilepsydiagnosis.org gives 7:3). Cohorts vary: 7:4 (Hu 2025), 7:0 (Videira 2023), 1:1 (Zanzmera 2016). The male skew is a consistent enough signal across the literature to record, but the effect size is soft.
• Ethnic/geographic distribution: no reported predilection. Cases published from Italy, France, Turkey, Denmark, Japan, India, China, Portugal, USA — i.e. wherever people do video-EEG. Consanguinity as a risk factor implies enrichment in populations with high consanguinity rates, but this hasn't been quantified.
• Age distribution: pediatric, by definition.

10. Diagnostics

The single most important test: video-EEG with surface EMG polygraphy

This is not optional and it is the whole ballgame. Genton & Bureau 2006 (PMID:17044728) are blunt that diagnosis requires "video documentation of the seizure and/or adequate polygraphy," as it may otherwise be missed.

What you're looking for — the time-locking. From the polygraphy literature: rhythmic bilateral myoclonias have "a strict and constant relation with the spike wave of the discharge; the latency between EEG spikes and EMG myoclonic activity varies between 15 and 40 milliseconds in proximal muscles."

Tang 2025:

"A strict time-locked relationship exists between EEG and EMG, making the analysis of electro-clinical symptoms with MA crucial for EMA diagnosis"

That 15–40 ms latency is basically corticospinal conduction time. It's the measurement that proves the cortex is driving the muscle rather than the two happening coincidentally. Beautiful piece of clinical neurophysiology.

Aoun 2021 (PMID:33632671) shows why the polygraphy matters even more than you'd think — they demonstrated that in one case "rhythmic upper limb jerking, mimicking positive myoclonus, corresponded to recovery of muscular tone after each negative myoclonus." So the arm going up can actually be the arm recovering from a brief drop. Without EMG you'd call it the wrong seizure type entirely. Their conclusion: "video-EEG recording coupled to EMG polygraphy is essential."

Electrode placement: bilateral deltoids at minimum.

EEG findings

Interictal (Tang 2025):

"The background EEG activity of EMA is typically remains normal" "Interictal recordings demonstrate generalized spike-wave or polyspike-waves predominance in the frontal area"

Abnormal background = a red flag for symptomatic EMA and a worse prognosis.

Ictal:

"the EEG shows rhythmic 3 Hz generalized spike-wave or polyspike-waves activity" "Accompanied by characteristic EMG manifesting as bilateral synchronous and symmetrical rhythmic EMG bursts, superimposed with gradually increasing tonic potential"

Zanzmera 2016 (PMID:27770719): "3- to 3.5-Hz spike-and-wave discharges (82%) and fast recruiting bifrontal rhythm (25%)."

Hu 2025: "In eight patients [of 11], bilateral symmetrically synchronized 3 Hz rhythmic spike-slow wave complex bursts, which showed a lock-in relationship with myoclonic, were recorded."

Activation procedures: hyperventilation, awakening, intermittent photic stimulation (positive in 14%).

Imaging

• Brain MRI (NCIT:C16809 Magnetic Resonance Imaging, OAK-verified): normal in idiopathic EMA; abnormal MRI defines the symptomatic form. Mandatory in the workup.
• Ictal SPECT: research tool only (Ikeda 2018). Not clinical practice.
• EEG-fMRI: used in childhood absence epilepsy research; Tang 2025 notes it showed involvement of "primary sensory (visual, auditory, somatosensory), motor (Rolandic) areas and frontoparietal association cortex" during absence seizures. Not established for EMA specifically.

Laboratory tests

• CSF glucose and CSF:blood glucose ratio — to screen for GLUT1 deficiency. This is the highest-yield metabolic test because a positive result changes treatment immediately (ketogenic diet).
• Ammonia and insulin — if the HI/HA (GLUD1) phenotype is suspected, especially with photosensitivity or episodic hypoglycemia.
• No EMA-specific biomarker exists.

Genetic testing — recommended approach

Given the etiological picture (single genes and recurrent CNVs both well-represented), a two-pronged approach:

1. Chromosomal microarray (CMA) — non-negotiable here. Trisomy 12p, 2q13 microdeletion, 15q11.2 microdeletion, and inv dup(15) have all produced EMA phenotypes. A gene panel alone will miss every one of these.
2. Epilepsy gene panel or whole-exome sequencing — covering at minimum SLC2A1, SYNGAP1, SETD1B, GLUD1, CREBBP, plus the broader absence-epilepsy genes (SLC6A1, CHD2, SCN1A, CACNA1A, GABRA2, GABRG2). WES has the advantage of catching the long tail; several of the EMA gene associations were WES discoveries (Hiraide 2019 explicitly: "Using whole-exome sequencing, we found a novel de novo variant").
3. Targeted SLC2A1 testing if CSF glucose is low — or just test it upfront given how actionable it is.

Karyotype/FISH: historical relevance (Klitten's translocation was mapped by FISH), but superseded by CMA + sequencing for first-line use. Note that a balanced translocation like Klitten's is invisible to both CMA and standard WES — so in a patient with EMA + intellectual disability and negative CMA/WES, karyotype still has a role.

Not applicable: mtDNA testing, repeat expansion testing, liquid biopsy, methylation arrays (except 15q11.2 imprinting studies if an Angelman-like EEG pattern is seen — see Chin 2026, PMID:42434914).

Omics diagnostics: not available / not established for EMA.

Clinical criteria (ILAE 2022)

EMA is one of three generalized epilepsies with childhood onset in the ILAE 2022 nosology (Specchio et al., Epilepsia 2022;63(6):1398-1442, PMID:35503717), alongside childhood absence epilepsy and epilepsy with eyelid myoclonia. ILAE 2022 classifies it as a hereditary generalized epilepsy syndrome with childhood onset.

Mandatory: myoclonic absence seizures — absences with rhythmic 3 Hz jerks of the upper limbs superimposed on tonic abduction of the arms, with abrupt onset and offset; ictal EEG showing regular 3 Hz generalized spike-wave time-locked to the jerks.

I was unable to retrieve the full ILAE mandatory/alert/exclusionary criteria table — both the Wiley full text and the ILAE PDF returned 403 in this session. Do not populate exclusionary criteria from memory; fetch PMID:35503717 properly before curating that section.

Differential diagnosis

From Tang 2025's comparison table:

Tang 2025: "In general, symptomatic EMA is often associated with abnormal neurological signs, abnormal background activity of EEG and structural abnormalities on brain MRI."

Additional differentials to rule out: - Childhood absence epilepsy with mild myoclonic features — Capovilla 2001 (PMID:11431166) describes "A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy." The boundary is genuinely fuzzy; the discriminator is whether the myoclonus is prominent, rhythmic, proximal, and tonically-augmented, versus incidental. - Atypical absence with negative myoclonus / ESES — Aoun 2021, PMID:33632671. EMG polygraphy is what separates these. - Focal seizures with automatisms — Myers & Scheffer 2018, PMID:29325826. - Myoclonic-atonic epilepsy (Doose) — nomenclature trap, different syndrome. This repo has a separate Epilepsy_with_Myoclonic_Atonic_Seizures entry; keep the two entries explicitly cross-referenced as differentials. - Lennox-Gastaut syndrome — both a differential and a possible evolution endpoint. - Early-onset absence epilepsy (<3 years) — Chaix 2003, PMID:12823578, "Absence epilepsy with onset before age three years: a heterogeneous and often severe condition"; Caraballo 2011, PMID:21269284. - ATRX syndrome — myoclonic absences appear in its EEG spectrum (Aiello 2022, PMID:36031702).

Screening

Not applicable. There is no newborn screening, carrier screening, or population screening for EMA. Cascade testing applies only in the rare families with an identified dominant variant (e.g. the GLUD1 family).

11. Outcome / Prognosis

Mortality

No EMA-specific mortality data available. Not a directly fatal condition. Standard epilepsy mortality considerations (SUDEP risk with uncontrolled GTCS, injury from atonic falls) apply but have not been quantified for EMA specifically. Life expectancy: not reported.

Seizure outcome

Zanzmera's conclusion, verbatim-ish from the abstract: "While most patients responded favorably to treatment, prognosis remained guarded, with some patients developing drug-resistant seizures evolving into different patterns."

Cognitive/functional outcome

The harder outcome. ~70% eventually have learning impairment (epilepsydiagnosis.org). Tassinari's 28-patient follow-up: 20/28 ended with cognitive deficits, of whom 7 had acquired the deficit during the disease course. Behavioral morbidity: ADHD, aggression, impulse-control problems, learning disabilities (Tang 2025).

Prognostic factors — the actionable list

1. Presence of GTCS — the strongest predictor. Bureau & Tassinari 2005 (PMID:15737698): treatment "proves most effective when myoclonic absences occur independently. However, prognosis becomes less favorable when combined with other seizure types, potentially progressing toward different epilepsy forms."
2. Atonic component — Carter 2022: "Of patients with an atonic component, 75% did not achieve seizure freedom with medication alone."
3. Pre-onset developmental delay — Hu 2025's conclusion, verbatim: "developmental delay before disease onset may be associated with a poor prognosis." In their drug-resistant subgroup, 4/6 (66.67%) had developmental delay predating the epilepsy.
4. Abnormal EEG background / abnormal MRI — symptomatic form marker.
5. Duration of uncontrolled seizures — correlated with cognitive decline severity (Tang 2025), though see the contradiction flagged in §8.

Complications

• Evolution to Lennox-Gastaut syndrome
• Myoclonic absence status epilepticus (HP:0032865) — 20% in Carter 2022
• Injury from atonic drop attacks
• Progressive cognitive and behavioral deterioration

Recovery potential

Seizures often diminish over time (average ~4 years, up to 10). Cognition does not follow: "complete functional recovery is rarely achieved" (Tang 2025). That asymmetry — the seizures burn out but the developmental cost is already paid — is the defining tragedy of the symptomatic form.

Prognostic biomarkers

Not available. No molecular prognostic marker exists. The best predictors are clinical (seizure types, EEG background, baseline development).

12. Treatment

First-line pharmacotherapy

Tang 2025, verbatim:

"The first-line ASMs are sodium valproate, ethosuximide, and lamotrigine, which can be used alone or in combination."

Genton & Bureau 2006 (PMID:17044728): treatment typically involves "valproic acid and ethosuximide, or valproic acid and lamotrigine."

Bureau & Tassinari 2005 (PMID:15737698): "Treatment with valproate and ethosuximide proves most effective when myoclonic absences occur independently."

Hu 2025: of the 5 patients who became seizure-free, 4/5 (80%) were on valproic acid alone. Zanzmera 2016: "Most benefited from valproate monotherapy or valproate-lamotrigine combination therapy."

So the consensus is unusually clean for a rare disease: valproate is the backbone, ethosuximide or lamotrigine is the partner.

(Note per this repo's memory: therapeutic_agent validation prefers CHEBI over NCIT drug terms — all of the above are CHEBI and OAK-verified.)

Second-line

Tang 2025: "Second-line ASMs include levetiracetam, acetazolamide, zonisamide, topiramate, and lacosamide." (I did not verify CHEBI IDs for acetazolamide or lacosamide — look those up before curating.)

Drugs to avoid — worth curating as an explicit treatment entry

Tang 2025: "Carbamazepine, phenytoin, vigabatrin, gabapentin, and tiagabine should be avoided due to their potential to exacerbate seizures."

The mechanism is well-understood generally: sodium-channel blockers and GABA-transaminase/reuptake drugs enhance thalamic burst firing and make generalized spike-wave worse. It's the pharmacological equivalent of trying to quiet a resonating string by pushing on it in rhythm.

Contradiction to preserve: levetiracetam appears as second-line in Tang 2025 and as an absence-aggravating drug in Auvin 2011 (PMID:21680209, "Aggravation of absence seizure related to levetiracetam"). Curate both; don't resolve it silently.

Refractory options

Rufinamide add-on — Häusler 2011 (PMID:21557146), n=3 boys refractory to conventional therapy:

"Add-on RUF treatment was initiated in 3 boys with EMA refractory to conventional antiepileptic therapy (primidone + valproic acid, n=1; levetiracetame + ethosuximide, n=2). It resulted in complete cessation of all seizures in 2, and a 50% reduction of the seizure frequency in one child, respectively."

Interesting that rufinamide — licensed for Lennox-Gastaut — works here, given EMA's tendency to evolve toward LGS. Possibly the same circuit vulnerability.

Low-dose phenobarbital — Ito 2021 (PMID:33461850), n=1: complete seizure freedom after adding low-dose phenobarbital to valproate + ethosuximide.

Ketogenic diet (NCIT:C173168 Ketogenic Diet, OAK-verified; NCIT:C15447 Dietary Intervention; modality BEHAVIORAL per this repo's mapping table). Especially indicated in GLUT1 deficiency, where it's not adjunctive but mechanistically corrective — ketones cross the blood-brain barrier via MCT1, which is intact, routing around the broken GLUT1 door entirely.

Vagus nerve stimulation — listed by Tang 2025. Modality DEVICE. ⚠️ No suitable NCIT clinical-action term found in the local NCIT adapter (NCIT:C203750 is transcutaneous auricular VNS, which is a different intervention). Leave term: off and keep a free-text preferred_term, per this repo's convention.

Corpus callosotomy — the most interesting refractory option, and mechanistically elegant: if the seizure depends on bilateral synchrony, cutting the main bridge between the hemispheres should degrade it.

Carter 2022 (PMID:35770757), verbatim:

"Two patients with epilepsy with myoclonic absences with atonia underwent corpus callosotomy; one patient was seizurefree eight months after surgery and the other had greater than 50% seizure reduction over a five-month period."

And their appropriately cautious conclusion: "the efficacy of this treatment should be further evaluated in a larger study."

Suggested NCIT: NCIT:C15656 Neurosurgical Procedure (OAK-verified) — NCIT has no specific callosotomy term in this build. Modality SURGERY.

Personalized medicine

Two real genotype-guided decisions exist: 1. SLC2A1/GLUT1DS → ketogenic diet. The clearest case. 2. **GLUD1/HI-HA → ** management of hyperinsulinism/hyperammonemia (diazoxide, protein-intake management) alongside seizure control.

Everything else is empirical. Pharmacogenomics: not available — no PharmGKB/CPIC guidance specific to EMA beyond the general HLA-B*15:02/carbamazepine and CYP2C9/phenytoin warnings, which are moot since both drugs are contraindicated here anyway.

Supportive / rehabilitative

Given the ~70% learning-impairment rate: special education support, speech-language therapy (NCIT:C159273, unverified), occupational therapy, behavioral intervention for ADHD/impulse control. Genetic counseling (NCIT:C15240 Genetic Counseling, OAK-verified) once a genetic cause is identified.

Clinical trials

None found specific to EMA. No NCT identifiers for EMA-specific trials. Patients would be enrolled, if at all, under broader generalized-epilepsy or LGS protocols. Cannabidiol has been discussed for epilepsies beyond Dravet/LGS (Lattanzi 2021, PMID:33754312) but I found no EMA-specific efficacy data.

13. Prevention

Short section, because there isn't much, and I'd rather say so than pad it.

• Primary prevention: not available. Most cases are de novo genetic or idiopathic. The only modifiable upstream factors are the perinatal ones (prematurity, birth injury) associated with symptomatic EMA, which is really just general perinatal care rather than EMA prevention.
• Immunization: not applicable.
• Population screening: not applicable. Too rare, no presymptomatic marker, no preventive intervention.
• Genetic screening: prenatal/preimplantation testing is technically available for families with an identified pathogenic variant (e.g. the GLUD1 kindred), and cascade testing of relatives applies in those rare families. Genetic counseling (NCIT:C15240) is appropriate once a molecular cause is found — but for the ~sporadic majority, recurrence risk counseling is essentially "low, empirical, unquantified."
• Secondary prevention (early detection): this is where the real leverage is. Because prognosis may track with duration of uncontrolled seizures, shortening time-to-diagnosis is the closest thing EMA has to a preventive intervention. The bottleneck is recognition: without video-EEG-plus-EMG, myoclonic absences get miscalled as tics, behavioral episodes, focal seizures, or plain absence. Tang 2025 states the goal of their review is to "reduce the rate of missed diagnosis and misdiagnosis."
• Tertiary prevention: seizure control to protect cognition; avoiding the aggravating drug list (a genuinely preventable iatrogenic harm); fall precautions in patients with atonic components.
• Behavioral / public health / environmental interventions: not applicable.

14. Other Species / Natural Disease

This section has exactly one entry, and it's delightful.

Dog — Canis lupus familiaris, NCBITaxon:9615.

Poma, Ochi & Cortez 2010 (PMID:20483714), Epileptic Disord, verbatim:

"Long-term video-EEG was recorded for an eight-month-old Chihuahua dog with recurrent episodes of altered behaviour associated with head and nose twitching. Each episode lasted one to two seconds, multiple times per day before treatment. Ictal EEG showed generalised bilaterally synchronous 4 Hz spike-and-wave complexes during the 'absence-like' event, along with rhythmically correlated head and nose twitching. We present video documentation of such attacks and discuss their similarities to human epilepsy with myoclonic absences."

That's a naturally occurring myoclonic-absence-like phenotype in a companion animal, with the same defining feature — twitching rhythmically correlated with the spike-wave discharge. Different frequency (4 Hz vs 3 Hz), different body part (head/nose vs shoulders/arms), much shorter duration (1–2 s vs 8–60 s), but the same architecture. Evidence source: MODEL_ORGANISM per this repo's rules (veterinary observations count as animal, even when observational).

VBO breed term for Chihuahua: exists but I did not verify the ID — look it up before curating.

• OMIA: not checked this session; worth a look for canine idiopathic generalized epilepsy entries.
• Zoonotic potential / cross-species transmission: not applicable, obviously.
• Comparative biology: the thalamocortical spike-wave oscillator is deeply conserved across mammals — it's the same machinery in rodents, cats, dogs, and humans, which is why absence models translate reasonably well. The motor recruitment branch that makes EMA distinctive is the part that has never been modeled deliberately.

15. Model Organisms

The honest headline: there is no EMA model

Nobody has built a mouse that has myoclonic absences. What exists are (a) good absence-epilepsy models that produce the 3 Hz-equivalent oscillation without the motor component, and (b) one model that happens to have both absence seizures and a paroxysmal motor phenotype, though they're separate events rather than the fused single seizure that defines EMA.

Genetic models of the underlying oscillator

GAERS (Genetic Absence Epilepsy Rat from Strasbourg) and WAG/Rij rat — the two workhorse inbred absence models. Both show spontaneous spike-wave discharges with behavioral arrest and the classic pharmacological profile (suppressed by ethosuximide and valproate, worsened by carbamazepine and vigabatrin). They model steps 1–4 of the EMA chain and none of step 5. (Not fetched in this session — verify PMIDs before citing.)

tottering (Cacna1a mouse) — the most EMA-adjacent model available. Missense mutation in Cacna1a, orthologue of human CACNA1A, in the pore-lining region of the P/Q-type Ca²⁺ channel. Three phenotypes: absence seizures with generalized spike-wave discharges (6–7 Hz in mouse), episodic dystonia, and mild ataxia. Critically, tottering shows "a striking downstream enhancement of α1G-mediated T-type currents in thalamic neurons before the onset of absence epilepsy" — i.e. a compensatory change in the thalamic burst-firing machinery precedes the seizures. That's a mechanistically interesting handle on how a channel defect converts into an oscillation.

Limitation, stated plainly: tottering's motor phenotype (60–90 minute dystonic attacks progressing along the body axis) is a separate event from its absence seizures. In EMA the motor and absence components are the same event, cycle-locked. So tottering models the ingredients but not the fusion.

Also worth noting: cerebellar neurons act as "powerful regulators of the pathological oscillations in the thalamocortical system" in Cacna1a models — an underexplored angle for EMA, where nobody has looked at the cerebellum.

Genetic α1G/CACNA1G overexpression — elevating α1G-mediated low-voltage-activated Ca²⁺ current in thalamus induces "pure absence epilepsy" (J Neurosci 29(6):1615). Useful as the negative control for the EMA question: this manipulation gives you absence without motor features, which sharpens the question of what EMA adds on top.

Models for the EMA-associated genes

• Syngap1 heterozygous mice — extensively characterized (premature excitatory synapse maturation, cognitive deficits, seizures). Good for the SYNGAP1 subgroup; not an EMA model per se.
• Slc2a1 haploinsufficient mice — established GLUT1DS model with spike-wave discharges and motor deficits; responds to ketogenic diet. The most translationally useful model on this list.
• Setd1b, Glud1, *Crebbp* — models exist for all three, none characterized for myoclonic absence phenotypes.

What's missing

No model recapitulates: 1. The cycle-by-cycle time-locking of cortical spike to muscle jerk (15–40 ms latency) 2. The progressive tonic contraction superimposed on the myoclonus 3. The cognitive deterioration proportional to seizure duration

A model that produced genuine cycle-locked corticospinal output during spike-wave would be the field-advancing tool here. This is a legitimate HUMAN_MODEL_MISMATCH discussion for the KB entry — evidence exists in models, but the models specifically lack the feature that defines the disease.

Resources

MGI (mouse), RGD (rat — GAERS/WAG-Rij strains), IMPC/KOMP (knockouts for SYNGAP1, SETD1B, SLC2A1, GLUD1, CREBBP), Alliance of Genome Resources.

Curation notes for the dismech entry

A few things I'd flag before this gets committed anywhere:

1. Verify before use. The HGNC IDs in §4, the CHEBI IDs for acetazolamide/lacosamide, the VBO Chihuahua term, the NCIT speech-therapy term, and any ICD-10 code are not OAK-verified in this session. Everything marked "OAK-verified" was checked against the local sqlite:obo:* adapters.
2. NEC risk. "MAE" is ambiguous between myoclonic absence epilepsy and myoclonic-astatic epilepsy (Doose). If any deep-research report is generated for this disease, run just preflight-dr and check the gene mentions — but note EMA has no canonical causal gene in MONDO, so preflight will likely return SKIP and you'll need the manual synonym/OMIM checks. The Doose collision is the specific thing to watch for.
3. Two curatable controversies, both worth discussions blocks:
4. Why motor? — the central open mechanistic question, with the Ikeda n=2 SPECT study as the only direct human evidence. KNOWLEDGE_GAP.
5. Does treatment timing matter? — Tang 2025 says course depends on GTCS "regardless of... treatment timing," while also saying cognitive decline tracks duration of intractable epilepsy. Direct internal tension. KNOWLEDGE_GAP.
6. Optionally a third: levetiracetam as second-line vs. absence-aggravating.
7. Module conformance: epilepsy_excitation_inhibition_imbalance#Excitation-Inhibition Imbalance is the natural target. Keep the motor-cortex-recruitment node as EMA-specific — don't push it up into the module.
8. Evidence source tagging: Ikeda 2018 (SPECT), all the cohort series, and the genetic case reports are HUMAN_CLINICAL. Poma 2010 (Chihuahua) is MODEL_ORGANISM. Any tottering/GAERS/α1G citations are MODEL_ORGANISM.
9. Prevalence: resist the urge to convert "0.5–1% of epilepsy patients" into a rate_per_100000. It's a proportion of a clinical population, not a population rate. prevalence_class: NOT_YET_DOCUMENTED with the figure in notes is the truthful curation.

Sources

Primary literature (PMIDs verified against PubMed records this session):

• Tang F, Li M, Liu L, Wang X, Qin B. Research progress on epilepsy with myoclonic absence. Acta Epileptol. 2025. doi:10.1186/s42494-025-00218-2. PMID:40380288 · full text
• Hu Q, Luo Y, Hong S, Yuan P, Jiang L. Electroclinical features of myoclonic absence epilepsy: A single-center cohort analysis in Southwest China. Epilepsy Behav. 2025 Oct;171:110505. PMID:40414191
• Carter EG, Armour EA, Pagano LM, Reddy SB. Epilepsy with myoclonic absences: a case series highlighting clinical heterogeneity and surgical management. Epileptic Disord. 2022;24(3):541-547. PMID:35770757
• Videira G, Raimundo R, Chorão R. Epilepsy with myoclonic absences: A case series. Seizure. 2023;106:162-163. PMID:36893512
• Zanzmera P, Menon RN, Karkare K, et al. Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype. Epilepsy Behav. 2016;64(Pt A):242-247. PMID:27770719
• Ikeda H, Imai K, Ikeda H, et al. Ictal single photon emission computed tomographic study of myoclonic absence seizures. Brain Dev. 2018;40(2):126-129. PMID:28823645
• Bureau M, Tassinari CA. Epilepsy with myoclonic absences. Brain Dev. 2005;27(3):178-84. PMID:15737698
• Genton P, Bureau M. Epilepsy with myoclonic absences. CNS Drugs. 2006;20(11):911-916. PMID:17044728
• Klitten LL, Møller RS, Nikanorova M, et al. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). Epilepsia. 2011;52(12):e190-3. PMID:22050443
• Hiraide T, Hattori A, Ieda D, et al. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia Open. 2019;4(3):476-481. PMID:31440728
• Gökben S, Yılmaz S, Klepper J, et al. Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. Epilepsy Behav. 2011;21(2):200-2. PMID:21546317
• Bahi-Buisson N, El Sabbagh S, Soufflet C, et al. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. Seizure. 2008;17(7):658-64. PMID:18321734
• Elia M, Musumeci SA, Ferri R, Cammarata M. Trisomy 12p and epilepsy with myoclonic absences. Brain Dev. 1998;20(2):127-30. PMID:9545186
• Häusler M, Kluger G, Nikanorova M. Epilepsy with myoclonic absences — favourable response to add-on rufinamide treatment in 3 cases. Neuropediatrics. 2011;42(1):28-29. PMID:21557146
• Myers KA, Scheffer IE. Myoclonic absence seizures with complex gestural automatisms. Eur J Paediatr Neurol. 2018;22(3):532-535. PMID:29325826
• Aoun MA, Eisermann M, Chemaly N, et al. Jerking during absences: video-EEG and polygraphy of epileptic myoclonus associated with two paediatric epilepsy syndromes. Epileptic Disord. 2021;23(1):191-200. PMID:33632671
• Poma R, Ochi A, Cortez MA. Absence seizures with myoclonic features in a juvenile Chihuahua dog. Epileptic Disord. 2010;12(2):138-41. PMID:20483714
• Matsubara K, Yamakawa K, Ishioka R, et al. Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein-Taybi syndrome. Seizure. 2025;131:1-4. PMID:40451035
• Specchio N, Wirrell EC, Scheffer IE, et al. ILAE classification and definition of epilepsy syndromes with onset in childhood. Epilepsia. 2022;63(6):1398-1442. PMID:35503717 · Wiley
• Ogawa et al. Epilepsy with myoclonic absence presenting with unilateral jerks: A case of 2q13 microdeletion syndrome. Seizure. 2023. PMID:36796225
• Chin HL, Chang J, Nordli D 3rd. Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome. Epileptic Disord. 2026. PMID:42434914
• Cherian A, Jabeen SA, Kandadai RM, et al. Epilepsy with myoclonic absences in siblings. Brain Dev. 2014. PMID:24491945
• Auvin S, Chhun S, et al. Aggravation of absence seizure related to levetiracetam. Eur J Paediatr Neurol. 2011. PMID:21680209
• Ito S, Nagumo K, et al. Low-dose phenobarbital for epilepsy with myoclonic absences. Brain Dev. 2021. PMID:33461850
• Tassinari CA, Lyagoubi S, Santos V, et al. Studies on spike and wave discharges in man. II. Clinical and EEG aspects of myoclonic absences. Electroencephalogr Clin Neurophysiol. 1970. PMID:4194033 · original 1969 French paper PMID:4985251
• Balestrini S, et al. Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology. Epilepsia. 2026. doi:10.1111/epi.18655

Reference resources: - epilepsydiagnosis.org — Epilepsy with Myoclonic Absences overview - MedLink Neurology — Epilepsy with myoclonic absences and Myoclonic absences - Jasper's Basic Mechanisms of the Epilepsies — The Voltage-Gated Calcium Channel and Absence Epilepsy - Genetic Enhancement of Thalamocortical Network Activity by Elevating α1G-Mediated LVA Calcium Current Induces Pure Absence Epilepsy, J Neurosci 29(6):1615 - MONDO:0019487 via local OAK sqlite:obo:mondo; HPO/GO/CL/UBERON/CHEBI/NCIT terms verified via local OAK adapters