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UNC13A-Related Congenital NDD with Epilepsy

UNC13A-Related Congenital Neurodevelopmental Disorder (NDD) with Epilepsy — Research Report

2026-04-24
Falcon MONDO:0980940 Model: Edison Scientific Literature 20 citations

UNC13A-Related Congenital Neurodevelopmental Disorder (NDD) with Epilepsy — Research Report

Executive summary

Biallelic loss-of-function (LoF) variants in UNC13A (encoding the presynaptic priming factor Munc13-1) cause a severe, congenital-onset disorder characterized by profound neurodevelopmental impairment (congenital encephalopathy), epileptiform EEG activity/epileptic encephalopathy, and a prominent presynaptic neuromuscular transmission defect (a “LEMS-like” congenital myasthenic syndrome phenotype) often complicated by respiratory failure and early death (engel2016lossofmunc131 pages 1-2, mullins2022homozygousunc13avariant pages 2-4). Published human evidence in this run includes (i) a 2016 Neurology Genetics case (Engel et al.) and (ii) a 2022 Cureus case with detailed neuropathology (Mullins et al.), both with biallelic truncating/frameshift variants (engel2016lossofmunc131 pages 1-2, mullins2022homozygousunc13avariant pages 2-4). Recent (2023–2024) sources retrieved here are reviews providing current understanding of presynaptic/synaptic disorders and clinical context (not new UNC13A congenital case expansions) (scorrano2024exploringthelandscape pages 1-2, ohno2023clinicalandpathologic pages 1-3, pugliese2023presynapticcongenitalmyasthenic pages 1-3).

Important limitation: In the retrieved full texts/snippets for this run, no OMIM/Orphanet/MONDO/ICD identifiers were explicitly stated for this specific entity, and therefore cannot be reliably reported without additional database retrieval beyond the provided tools/evidence (asadollahi2025pathogenicunc13avariants pages 1-2, engel2016lossofmunc131 pages 1-2, mullins2022homozygousunc13avariant pages 2-4).

1. Disease information

1.1 Overview (what is the disease?)

UNC13A-related congenital NDD with epilepsy is best supported (from available primary reports) as an autosomal recessive disorder due to biallelic truncating/LoF UNC13A variants, presenting with: - Congenital encephalopathy / severe global neurodevelopmental impairment - Cortical hyperexcitability (epileptiform EEG and/or epileptic encephalopathy) - Severe presynaptic neuromuscular transmission failure (congenital myasthenic syndrome-like), with respiratory complications and high mortality (engel2016lossofmunc131 pages 1-2, mullins2022homozygousunc13avariant pages 2-4).

Primary literature abstract support (direct quote): Engel et al. report a “fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia” due to “a homozygous nonsense mutation … of MUNC13-1 (UNC13A)” (engel2016lossofmunc131 pages 1-2).

1.2 Synonyms / alternative names (as used in the retrieved literature)

The primary reports used descriptive labels rather than a standardized disease name: - “Loss of MUNC13-1 function” syndrome; “fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia” (Engel 2016) (engel2016lossofmunc131 pages 1-2) - “Congenital encephalopathy and severe neuromuscular phenotype” with epileptic encephalopathy (Mullins 2022) (mullins2022homozygousunc13avariant pages 2-4) - In broader mechanistic/clinical reviews, UNC13A is listed among genes relevant to SNARE machinery and congenital myasthenic syndromes (CMS) (cali2022epilepticphenotypesassociated pages 1-2, ohno2023clinicalandpathologic pages 1-3).

1.3 Key identifiers (OMIM/Orphanet/ICD/MeSH/MONDO)

No OMIM/Orphanet/MONDO/ICD/MeSH identifiers were present in the retrieved excerpts for the congenital UNC13A condition (asadollahi2025pathogenicunc13avariants pages 1-2, engel2016lossofmunc131 pages 1-2, mullins2022homozygousunc13avariant pages 2-4).

Ontology suggestion: If a MONDO term is required for a knowledge base, it will likely need to be created/mapped by curators from primary reports (Engel 2016; Mullins 2022) rather than extracted from the current retrieved texts.

1.4 Evidence source type

2. Etiology

2.1 Disease causal factors

Primary cause: germline loss-of-function UNC13A variants disrupting synaptic vesicle priming and neurotransmitter release at both the neuromuscular junction and CNS synapses. - Engel et al. identified a homozygous nonsense variant c.304C>T (p.Gln102*) truncating Munc13-1 to 101/1703 amino acids (engel2016lossofmunc131 pages 3-5). - Mullins et al. report a homozygous frameshift c.1188delC (p.Asp397Thrfs*107) (mullins2022homozygousunc13avariant pages 2-4).

Mechanistic framing (direct quote from Engel abstract): “Loss of Munc13-1 function predicts that syntaxin 1B is consigned to a nonfunctional closed state; this inhibits cholinergic transmission at the neuromuscular junction and glutamatergic transmission in the brain.” (engel2016lossofmunc131 pages 1-2).

2.2 Risk factors

  • Genetic risk: parental consanguinity increases the likelihood of homozygosity for rare UNC13A LoF alleles; the 2022 case explicitly reports parents as distant cousins (mullins2022homozygousunc13avariant pages 1-2).
  • No environmental, infectious, or lifestyle risk factors were described in the retrieved primary reports.

2.3 Protective factors / gene–environment interactions

No protective factors or gene–environment interactions were reported in the retrieved evidence.

3. Phenotypes

3.1 Core phenotype spectrum (from primary cases)

Below is a consolidated phenotype list supported by the two biallelic LoF cases in this run.

Neurologic / developmental

Neuromuscular / respiratory

Neuroimaging / neuropathology

3.2 Phenotype characteristics (onset, severity, course)

3.3 Quantitative data (recent studies)

While case counts are very small in the congenital biallelic LoF form in this run, Engel provides quantitative electrophysiology demonstrating profound presynaptic failure: - MEPP frequency in 5 mM K+ (patient): 0.23/min vs controls 10.7/min - MEPP frequency in 20 mM K+ (patient): 0.48/min vs controls 173/min - Quantal content of EPP at 1 Hz (patient): 0.89 vs 6-month control 14.7 - Readily releasable quanta n (patient): 7.5 vs 6-month control 72 - Probability of release p: normal (0.14) (engel2016lossofmunc131 pages 3-5, engel2016lossofmunc131 media ceed3256).

3.4 Suggested HPO terms

(ontology suggestions; not explicitly listed in sources) - Seizures: Infantile spasms (HP:0012469), Epileptic encephalopathy (HP:0200134) - EEG burst suppression: Burst suppression (HP:0010855) - Abnormal EEG: Abnormality of EEG (HP:0002353) - Microcephaly: Microcephaly (HP:0000252) - Hypotonia: Hypotonia (HP:0001252) - Feeding difficulty: Feeding difficulties (HP:0011968) - Respiratory failure: Respiratory insufficiency (HP:0002093) - Myasthenic symptoms: Abnormality of neuromuscular junction (HP:0003201) (broad) - Thin corpus callosum: Thin corpus callosum (HP:0033725) (if available in HPO; otherwise “Abnormal corpus callosum morphology” HP:0001273)

4. Genetic / molecular information

4.1 Causal gene

  • UNC13A (encodes Munc13-1), a key presynaptic protein required for synaptic vesicle docking/priming and SNARE complex function (engel2016lossofmunc131 pages 1-2).

4.2 Pathogenic variants (from primary reports in this run)

Variant type/class: truncating LoF (nonsense/frameshift) consistent with autosomal recessive inheritance in these congenital, severe cases (engel2016lossofmunc131 pages 3-5, mullins2022homozygousunc13avariant pages 2-4).

4.3 Functional consequences

Engel et al. emphasize that Munc13-1 interacts with syntaxin 1B to promote an open conformation needed for primed SNARE complexes and exocytosis (engel2016lossofmunc131 pages 1-2). Their conclusion links LoF to impaired CNS and NMJ transmission (engel2016lossofmunc131 pages 1-2).

4.4 Modifier genes / epigenetics / chromosomal abnormalities

No modifier genes, epigenetic signatures, or chromosomal abnormalities were reported for this congenital condition in the retrieved evidence.

5. Environmental information

No disease-specific environmental/lifestyle/infectious triggers or modifiers were described in the primary congenital UNC13A LoF cases retrieved here.

6. Mechanism / pathophysiology

6.1 Causal chain (UNC13A LoF → synaptic failure → clinical phenotype)

Upstream trigger: biallelic UNC13A truncating variants → marked loss of functional Munc13-1.

Molecular/cellular mechanism: impaired Munc13-1 function disrupts opening of syntaxin 1B and assembly/priming of SNARE complexes required for vesicle exocytosis; physiologically this manifests as profound depletion of the readily releasable vesicle pool (engel2016lossofmunc131 pages 1-2, engel2016lossofmunc131 pages 3-5).

System-level consequences: - NMJ: markedly reduced MEPP frequency and quantal content with normal release probability → severe neuromuscular weakness and LEMS-like electrophysiology (engel2016lossofmunc131 pages 3-5, engel2016lossofmunc131 media ceed3256). - CNS: abnormal cortical electrical activity/epileptiform EEG and structural brain findings (microcephaly; thin corpus callosum; neuropathologic malformations) (engel2016lossofmunc131 pages 2-3, mullins2022homozygousunc13avariant pages 2-4).

6.2 Pathways / ontology suggestions

  • Pathway/complex: SNARE-mediated synaptic vesicle exocytosis (contextualized in “SNAREopathies” review) (cali2022epilepticphenotypesassociated pages 1-2).
  • Suggested GO Biological Process terms: neurotransmitter secretion; synaptic vesicle priming; regulated exocytosis; synaptic transmission.
  • Suggested CL (cell types): motor neuron (CL:0000100), cortical glutamatergic neuron (broad), cerebellar Purkinje cell (CL:0000121).

6.3 Expert synthesis from authoritative reviews (2023–2024)

  • CMS review (Ohno et al., 2023) frames CMS as NMJ transmission disorders due to germline variants, noting that diagnosis requires electrophysiology and genetic testing, and discusses therapeutic classes used across CMS (ohno2023clinicalandpathologic pages 1-3).
  • Presynaptic CMS review (Pugliese et al., 2023) notes presynaptic CMS can present prenatally/neonatally with severe phenotypes including developmental delay and apnoeic crises and that animal models are used to study mechanisms and treatment testing (pugliese2023presynapticcongenitalmyasthenic pages 1-3).
  • Synaptopathy review (Scorrano et al., 2024) summarizes NGS-driven discovery of synaptic gene variants and uses UNC13A as an example among presynaptic genes in pediatric epilepsy/NDD contexts (scorrano2024exploringthelandscape pages 1-2).

7. Anatomical structures affected

7.1 Primary organs/systems

7.2 Suggested UBERON terms

7.3 Subcellular localization (suggested)

Munc13-1 is a presynaptic active zone-associated protein; relevant GO Cellular Component suggestions include presynaptic active zone and synaptic vesicle-related compartments.

8. Temporal development

9. Inheritance and population

9.1 Inheritance

9.2 Epidemiology / prevalence

No disease-specific prevalence/incidence estimates were reported in the retrieved evidence. (The presynaptic CMS review provides a general CMS prevalence estimate—1.8 to 14.8 per million under age 18—but this is not UNC13A-specific and should not be used as the prevalence of UNC13A-related disease) (pugliese2023presynapticcongenitalmyasthenic pages 1-3).

9.3 Consanguinity

Parental consanguinity is reported in the 2022 case (parents distant cousins), consistent with recessive inheritance (mullins2022homozygousunc13avariant pages 1-2).

10. Diagnostics

10.1 Clinical and electrophysiologic testing

Evidence-based diagnostic features from Engel include: - Low baseline CMAP amplitudes with decrement on low-frequency stimulation and facilitation (>100% increase) with rapid stimulation, consistent with a presynaptic defect (engel2016lossofmunc131 pages 2-3). - In vitro microelectrode studies demonstrating profoundly reduced MEPP frequency and readily releasable pool with normal release probability (engel2016lossofmunc131 pages 3-5, engel2016lossofmunc131 media ceed3256).

10.2 Neuroimaging

10.3 Genetic testing approach (real-world implementation)

10.4 Differential diagnosis

Given the overlap with presynaptic CMS/LEMS-like physiology and severe early encephalopathy, differential diagnosis should include other SNARE complex and presynaptic CMS genes (e.g., SNAP25, VAMP1, SYT2, STXBP1), as discussed in CMS and SNAREopathy reviews (ohno2023clinicalandpathologic pages 1-3, cali2022epilepticphenotypesassociated pages 1-2).

11. Outcome / prognosis

No formal survival curves or prognostic biomarkers were available in the retrieved evidence.

12. Treatment

12.1 Pharmacotherapy used in reported UNC13A biallelic LoF case

In Engel 2016: - Pyridostigmine increased CMAP amplitude but did not improve strength and caused “copious secretions” (engel2016lossofmunc131 pages 2-3). - 3,4-diaminopyridine increased ulnar CMAP and improved cough/cry with only slight limb strength improvement (engel2016lossofmunc131 pages 2-3).

Suggested MAXO terms (ontology suggestions): - Acetylcholinesterase inhibitor therapy (pyridostigmine) - Potassium channel blocker therapy / amifampridine-class therapy (3,4-diaminopyridine) - Mechanical ventilation - Gastrostomy tube feeding

12.2 Supportive care

Supportive interventions reported include ventilatory support and enteral feeding (gastric tube; fundoplication; gastrojejunostomy) (engel2016lossofmunc131 pages 2-3, mullins2022homozygousunc13avariant pages 1-2).

12.3 Clinical trials

A ClinicalTrials.gov search for “UNC13A” in this run primarily retrieved ALS-related studies (not congenital NDD with epilepsy) (NCT05193994; NCT06681610). These should not be interpreted as trials for the congenital UNC13A disorder.

13. Prevention

No primary prevention strategies are described for this ultra-rare genetic disorder. Prevention is primarily via genetic counseling, carrier testing in at-risk families, and reproductive options.

14. Other species / natural disease

No naturally occurring veterinary disease analogs were retrieved in this run.

15. Model organisms (supporting mechanism)

Although not a disease-model paper per se in this run, Engel links human findings to Munc13-1 knockout mouse observations and to SNARE/syntaxin biology (engel2016lossofmunc131 pages 3-5, engel2016lossofmunc131 pages 5-6). Mechanistic reviews emphasize that presynaptic genes are conserved and can be modeled in zebrafish, mouse, and C. elegans (pugliese2023presynapticcongenitalmyasthenic pages 1-3).

Evidence tables

A structured summary of human evidence is provided below.

Table (click to expand)
Publication (first author, year, journal) URL/DOI Evidence type (human case report/series) Inheritance/variant(s) Key neurologic features (development, seizures/EEG) Key neuromuscular features Neuroimaging/neuropathology Outcome Notes (e.g., treatments tried)
Engel, 2016, Neurology Genetics https://doi.org/10.1212/NXG.0000000000000105 Single human case report with clinical, electrophysiologic, ultrastructural, and genetic analysis Homozygous nonsense UNC13A variant c.304C>T, p.Gln102*; parents heterozygous; autosomal recessive pattern (engel2016lossofmunc131 pages 1-2, engel2016lossofmunc131 pages 3-5) Premature infant with hypotonia at birth; microcephaly by 4 months; EEG showed 2–4 Hz posterior background activity, nearly continuous multifocal sharp waves centrally, and periodic trains of sharp waves in both hemispheres without overt seizures; at 21 months unable to sit, babbled but could not speak (engel2016lossofmunc131 pages 1-2, engel2016lossofmunc131 pages 2-3) Severe presynaptic neuromuscular transmission defect: low-amplitude CMAPs, 20–40% decrement on repetitive stimulation, >100% facilitation with rapid stimulation; marked hypotonia/hyporeflexia, barely moved, ptosis, no voluntary/tracking eye movements, intermittent squint, thoracic kyphoscoliosis, flexion contractures; in vitro studies showed markedly reduced MEPP frequency and readily releasable quanta with normal release probability (engel2016lossofmunc131 pages 2-3, engel2016lossofmunc131 pages 3-5, engel2016lossofmunc131 pages 5-6) Brain MRI: thin corpus callosum; muscle/endplate studies showed preserved junctional architecture and normal AChR/AChE localization despite physiologic presynaptic failure (engel2016lossofmunc131 pages 2-3, engel2016lossofmunc131 pages 3-5) Became ventilator dependent after prolonged respiratory arrest during pneumonia at 10–11 months; died of respiratory failure at age 50 months (engel2016lossofmunc131 pages 2-3) Pyridostigmine increased CMAP amplitude but not strength and caused copious secretions; 3,4-diaminopyridine increased CMAP amplitude and modestly improved cough/cry with only slight limb-strength benefit (engel2016lossofmunc131 pages 2-3)
Mullins, 2022, Cureus https://doi.org/10.7759/cureus.30774 Single human case report with detailed CNS neuropathology Homozygous UNC13A frameshift variant c.1188delC, p.Asp397Thrfs*107; parents distant cousins; autosomal recessive pattern (mullins2022homozygousunc13avariant pages 2-4, mullins2022homozygousunc13avariant pages 1-2) Congenital encephalopathy with severe neuromuscular phenotype; infantile spasms; EEG with burst-suppression pattern; alternating hypertonia and hypotonia, decreased consciousness, weak suck and gag; small optic nerves (mullins2022homozygousunc13avariant pages 2-4, mullins2022homozygousunc13avariant pages 1-2) Extreme generalized muscle weakness; feeding dependence via gastrojejunostomy; severe kyphoscoliosis; diaphragmatic and umbilical hernias (mullins2022homozygousunc13avariant pages 1-2) MRI largely unremarkable aside from non-occlusive venous sinus thrombosis; autopsy brain showed open Sylvian fissures, blunted frontal and left temporal lobes, vertical hippocampus, absent lines of Gennari, absent subcortical U-fibers; microscopy showed synuclein-positive axonal spheroids in septum pellucidum, cerebellar Purkinje-layer gliosis without Purkinje-cell loss, spinal cord atrophy, and small optic nerves; skin EM showed fingerprint/lamellar inclusions; faint PAS-positive hepatocyte inclusions (mullins2022homozygousunc13avariant pages 2-4, mullins2022homozygousunc13avariant pages 4-5) Died at 8 months, with bronchopneumonia in the setting of severe neurologic disease (mullins2022homozygousunc13avariant pages 2-4) Report framed as first detailed CNS neuropathologic report of homozygous UNC13A loss; excerpt did not specify a disease-targeted treatment regimen (mullins2022homozygousunc13avariant pages 1-2, mullins2022homozygousunc13avariant pages 4-5)
Su, 2025, Genes & Diseases https://doi.org/10.1016/j.gendis.2024.101315 Human case series of 3 unrelated probands Three de novo heterozygous missense UNC13A variants: c.1892T>A/p.Met631Lys, c.1945T>C/p.Phe649Leu, c.2441C>T/p.Pro814Leu; absent from population databases (su2025denovomissense pages 1-3) Epileptic encephalopathies/intellectual disability; seizure onset at 1y6m, 1y8m, and 7y; focal-onset seizures in febrile and afebrile states; history of status epilepticus; EEG showed focal discharges in the Rolandic region; one had ADHD; dysmorphism and café-au-lait spot noted in one (su2025denovomissense pages 1-3) Not specifically described in the available excerpt (su2025denovomissense pages 1-3) Neuroimaging normal in 2 patients; 1 had bilateral lateral ventricle trigone signal abnormalities and abnormal local gyral structure (su2025denovomissense pages 1-3) Long-term outcome not detailed in available excerpt (su2025denovomissense pages 1-3) Functional assays in zebrafish/cell systems supported pathogenicity via increased epileptiform activity and calcium fluctuations; no specific antiseizure treatment details available in excerpt (su2025denovomissense pages 1-3)
Asadollahi, 2025, Nature Genetics https://doi.org/10.1038/s41588-025-02361-5 Large human series / syndrome-defining study, 48 index patients Germline coding or splice-site UNC13A variants; mixed inheritance: autosomal recessive biallelic loss-of-function variants (type A), de novo heterozygous missense gain-of-function variants (type B), and familial heterozygous regulatory missense variant C587F (type C) (asadollahi2025pathogenicunc13avariants pages 1-2) UNC13A-related neurodevelopmental syndrome with variable global developmental delay/intellectual disability, seizures of different types, hypotonia, tremor, ataxia, dyskinetic movements; severe type A had profound GDD and early-onset seizures; type B seizures mainly refractory to treatment (asadollahi2025pathogenicunc13avariants pages 1-2) Hypotonia reported among core features; additional neuromuscular-specific phenotype details not provided in excerpt (asadollahi2025pathogenicunc13avariants pages 1-2) EEG and neuroimaging not detailed in available excerpt (asadollahi2025pathogenicunc13avariants pages 1-2) Some patients died in early childhood (asadollahi2025pathogenicunc13avariants pages 1-2) Provides three subtype framework (A–C) linked to distinct mechanisms: reduced protein expression, gain-of-function increased neurotransmission, and impaired second-messenger regulation; 48 index patients total, including 13 in heterozygous de novo missense group and one affected family with at least 4 members (asadollahi2025pathogenicunc13avariants pages 1-2)

Table: This table summarizes published human case reports and series relevant to UNC13A-related congenital neurodevelopmental disorder with epilepsy, including congenital encephalopathy with neuromuscular involvement. It highlights inheritance, phenotype, imaging/pathology, outcomes, and treatment notes using only evidence explicitly available in the retrieved snippets and read text.

Key URLs and publication dates (from retrieved sources)

Figures/tables examined

  • Engel 2016 Table 1 (microelectrode studies) and Figure 2 (thin corpus callosum MRI) were inspected directly (engel2016lossofmunc131 media ceed3256).

References

  1. (engel2016lossofmunc131 pages 1-2): Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, and C. Michel Harper. Loss of munc13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurology Genetics, Oct 2016. URL: https://doi.org/10.1212/nxg.0000000000000105, doi:10.1212/nxg.0000000000000105. This article has 81 citations.

  2. (mullins2022homozygousunc13avariant pages 2-4): Jordyn R Mullins, Kathryn McFadden, Nicole Snow, and Angelica Oviedo. Homozygous unc13a variant in an infant with congenital encephalopathy and severe neuromuscular phenotype: a case report with detailed central nervous system neuropathologic findings. Cureus, Oct 2022. URL: https://doi.org/10.7759/cureus.30774, doi:10.7759/cureus.30774. This article has 4 citations.

  3. (scorrano2024exploringthelandscape pages 1-2): Giovanna Scorrano, Ludovica Di Francesco, Armando Di Ludovico, Francesco Chiarelli, and Sara Matricardi. Exploring the landscape of pre- and post-synaptic pediatric disorders with epilepsy: a narrative review on molecular mechanisms involved. International Journal of Molecular Sciences, 25:11982, Nov 2024. URL: https://doi.org/10.3390/ijms252211982, doi:10.3390/ijms252211982. This article has 10 citations.

  4. (ohno2023clinicalandpathologic pages 1-3): K. Ohno, B. Ohkawara, Xinming Shen, D. Selcen, and A. Engel. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes—a comprehensive review. International Journal of Molecular Sciences, Feb 2023. URL: https://doi.org/10.3390/ijms24043730, doi:10.3390/ijms24043730. This article has 111 citations.

  5. (pugliese2023presynapticcongenitalmyasthenic pages 1-3): Alessia Pugliese, Stephen H. Holland, Carmelo Rodolico, Hanns Lochmüller, and Sally Spendiff. Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models. Journal of Neuromuscular Diseases, 10:731-759, Sep 2023. URL: https://doi.org/10.3233/jnd-221646, doi:10.3233/jnd-221646. This article has 17 citations and is from a peer-reviewed journal.

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  7. (cali2022epilepticphenotypesassociated pages 1-2): Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, and Henry Houlden. Epileptic phenotypes associated with snares and related synaptic vesicle exocytosis machinery. Frontiers in Neurology, Jan 2022. URL: https://doi.org/10.3389/fneur.2021.806506, doi:10.3389/fneur.2021.806506. This article has 30 citations and is from a peer-reviewed journal.

  8. (engel2016lossofmunc131 pages 3-5): Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, and C. Michel Harper. Loss of munc13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurology Genetics, Oct 2016. URL: https://doi.org/10.1212/nxg.0000000000000105, doi:10.1212/nxg.0000000000000105. This article has 81 citations.

  9. (mullins2022homozygousunc13avariant pages 1-2): Jordyn R Mullins, Kathryn McFadden, Nicole Snow, and Angelica Oviedo. Homozygous unc13a variant in an infant with congenital encephalopathy and severe neuromuscular phenotype: a case report with detailed central nervous system neuropathologic findings. Cureus, Oct 2022. URL: https://doi.org/10.7759/cureus.30774, doi:10.7759/cureus.30774. This article has 4 citations.

  10. (engel2016lossofmunc131 pages 2-3): Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, and C. Michel Harper. Loss of munc13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurology Genetics, Oct 2016. URL: https://doi.org/10.1212/nxg.0000000000000105, doi:10.1212/nxg.0000000000000105. This article has 81 citations.

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