Home / Deep Research / CN-Related Developmental and Epileptic Encephalopathy

CN-Related Developmental and Epileptic Encephalopathy

CN-Related Developmental and Epileptic Encephalopathy (interpreted as **CNNM2-related DEE end of spectrum**) — Comprehensive Research Report

2026-05-08
Falcon MONDO:0020630 Model: Edison Scientific Literature 19 citations

CN-Related Developmental and Epileptic Encephalopathy (interpreted as CNNM2-related DEE end of spectrum) — Comprehensive Research Report

Executive interpretation / scope note

The query term “CN-related developmental and epileptic encephalopathy” is not a standard disease label in the retrieved sources. Based on the best-matching, directly evidenced literature, this report treats the target as CNNM2-related hypomagnesemia with seizures and neurodevelopmental impairment, in which biallelic (autosomal recessive) CNNM2 variants can present as severe developmental and epileptic encephalopathy (DEE) with brain malformations (accogli2019cnnm2homozygousmutations pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 5-6, arjona2014cnnm2mutationscause pages 7-9). Where the evidence discusses the broader CNNM2 spectrum (including milder autosomal dominant forms), this is explicitly noted.

1. Disease Information

1.1 Disease overview

CNNM2-related hypomagnesemia with seizures and neurodevelopmental impairment is a Mendelian disorder caused by pathogenic variants in CNNM2 (cyclin M2), a protein implicated in renal magnesium handling and brain development/function. The phenotype spans: - Autosomal dominant (AD), often de novo heterozygous variants with hypomagnesemia and variable seizures and developmental delay/intellectual disability. - Autosomal recessive (AR), biallelic variants with neonatal-onset refractory seizures, severe developmental impairment, and structural brain abnormalities, consistent with a DEE phenotype (zhang2021cnnm2relateddisordersphenotype pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 5-6, arjona2014cnnm2mutationscause pages 7-9).

1.2 Key identifiers

From primary literature: - HSMR syndrome (“hypomagnesemia, seizures, and intellectual disability syndrome”), MIM# 616418 (franken2021thephenotypicand pages 1-4). - HOMG6 (“autosomal dominant renal hypomagnesemia 6”), MIM# 613882 (petrakis2022thep.pro482alavariant pages 1-2). - The term HOMGSMR1 (“Hypomagnesemia, seizures, and impaired intellectual development 1”) is used in recent literature (li2025twonovelvariants pages 1-2). - Gene: CNNM2 (OMIM gene entry MIM 607803) (arjona2014cnnm2mutationscause pages 1-2); also noted as previously known as ACDP2 (zhang2021cnnm2relateddisordersphenotype pages 1-2).

Not found in retrieved full texts during this run: MONDO, Orphanet, MeSH, ICD-10/ICD-11 codes/IDs.

1.3 Synonyms / alternative names

1.4 Evidence provenance

The disease characterization here is derived from aggregated disease-level resources in the primary literature (case series + literature reviews) and individual patient case reports (zhang2021cnnm2relateddisordersphenotype pages 1-2, franken2021thephenotypicand pages 10-12, arjona2014cnnm2mutationscause pages 1-2, accogli2019cnnm2homozygousmutations pages 1-2).

2. Etiology

2.1 Disease causal factors

Primary cause: genetic — pathogenic variants in CNNM2. - A foundational report identified CNNM2 mutations in families with “mental retardation, seizures, and hypomagnesemia,” including both de novo heterozygous and recessive inheritance (arjona2014cnnm2mutationscause pages 1-2). - Severe DEE presentations are enriched in biallelic/homozygous cases, described as “severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations” (accogli2019cnnm2homozygousmutations pages 1-2).

Mechanistic cause (proximal physiology): renal magnesium wasting / dysregulated Mg2+ handling with downstream neurodevelopmental dysfunction (arjona2014cnnm2mutationscause pages 1-2, arjona2014cnnm2mutationscause pages 7-9, bosman2024hypomagnesaemiawithvarying pages 1-2).

2.2 Risk factors

2.3 Protective factors

No protective variants or protective environmental factors were identified in the retrieved primary texts.

2.4 Gene–environment interactions

No direct CNNM2-specific gene–environment interaction evidence was found in the retrieved literature.

3. Phenotypes (human)

3.1 Core phenotypes and suggested HPO terms

Neurologic (DEE-relevant) - Seizures (HP:0001250) (zhang2021cnnm2relateddisordersphenotype pages 5-6, arjona2014cnnm2mutationscause pages 7-9) - Developmental delay / global developmental delay (HP:0001263) and Intellectual disability (HP:0001249) (zhang2021cnnm2relateddisordersphenotype pages 5-6, franken2021thephenotypicand pages 10-12) - Speech delay (HP:0000750) (franken2021thephenotypicand pages 10-12) - Hypotonia (HP:0001252) (reported in severe cases) (accogli2019cnnm2homozygousmutations pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 4-4) - Microcephaly (HP:0000252) (zhang2021cnnm2relateddisordersphenotype pages 4-4, accogli2019cnnm2homozygousmutations pages 1-2) - Autism / autistic features (HP:0000729) in some patients (arjona2014cnnm2mutationscause pages 2-4, franken2021thephenotypicand pages 10-12)

Biochemical - Hypomagnesemia (HP:0002917) typically with renal wasting (arjona2014cnnm2mutationscause pages 2-4, bosman2024hypomagnesaemiawithvarying pages 1-2)

Growth/other - Obesity (HP:0001513) is common in heterozygous cohorts (franken2021thephenotypicand pages 10-12)

3.2 Phenotype characteristics (onset, severity, progression)

Seizure onset and severity stratified by inheritance - AR/biallelic (DEE end of spectrum): neonatal onset 1–6 days with refractory seizures, including myoclonic and generalized tonic–clonic seizures and possible status epilepticus; associated with severe ID/DD and MRI abnormalities (zhang2021cnnm2relateddisordersphenotype pages 5-6, zhang2021cnnm2relateddisordersphenotype pages 4-4). - AD/heterozygous: onset is typically infancy (often 4 months–1 year), with seizures frequently responsive to ASMs and sometimes remitting over time; developmental impairment tends to be milder than AR cases (zhang2021cnnm2relateddisordersphenotype pages 5-6, franken2021thephenotypicand pages 8-10).

Quantitative frequency/statistics from cohorts - In a 14-patient heterozygous cohort, the majority experienced seizures and neurodevelopmental impairment, and severe obesity was very frequent (franken2021thephenotypicand pages 10-12). - In a synthesis of 23 cases, the most common phenotype class (type 2, AD hypomagnesemia + epilepsy + ID/DD) had 86.7% (13/15) seizures and 93.3% (14/15) ID/DD; AR cases (3/23) were the most severe (zhang2021cnnm2relateddisordersphenotype pages 5-6).

3.3 Quality of life / functional impact

Direct QoL instrument results (e.g., EQ-5D/SF-36) were not found in the retrieved evidence. However, severe AR/DEE cases include profound disability (nonverbal, severe developmental impairment) (zhang2021cnnm2relateddisordersphenotype pages 5-6), and AD cases can include persistent ID/speech impairment and obesity (franken2021thephenotypicand pages 10-12).

4. Genetic / Molecular Information

4.1 Causal gene

4.2 Pathogenic variant classes and functional consequences

Variant classes reported across cohorts/case series include missense variants, nonsense/premature stop variants, small deletions/frameshift variants, and larger deletions (zhang2021cnnm2relateddisordersphenotype pages 4-4, franken2021thephenotypicand pages 8-10).

Functional consequence: predominantly loss-of-function / impaired CNNM2-mediated Mg2+ handling. - Mutant CNNM2 proteins failed to augment Mg2+ uptake in cell-based assays and showed trafficking defects in some alleles, consistent with LoF (arjona2014cnnm2mutationscause pages 7-9).

Example variants (illustrative; not exhaustive) - Severe AR/DEE-associated examples include homozygous c.1642G>A (p.Val548Met) (accogli2019cnnm2homozygousmutations pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 4-4) and recessive p.Glu122Lys (arjona2014cnnm2mutationscause pages 7-9). - AD/heterozygous examples in aggregated tables include variants such as p.Leu48Pro, p.Tyr314, p.Leu321del, p.Val324Met, p.Leu418Pro, p.Ser795Leu, p.Arg797 (zhang2021cnnm2relateddisordersphenotype pages 4-4, li2021casereportcnnm2 pages 5-6). - In two de novo infant cases, variants were classified as likely pathogenic per ACMG and identified by trio-WES: c.814T>C (p.Phe272Leu) and c.976G>C (p.Val326Leu)** (zhang2021cnnm2relateddisordersphenotype pages 2-4).

4.3 Modifier genes / protective alleles

No specific modifier genes or protective alleles were established in the retrieved evidence, though variable expressivity is emphasized.

4.4 Epigenetic information

No CNNM2-DEE–specific epigenetic signatures were found in the retrieved evidence.

4.5 Chromosomal abnormalities

Not a focus of the retrieved core CNNM2-HSMR/DEE literature in this run.

5. Environmental Information

CNNM2-related DEE/HSMR is primarily genetic. No consistent toxins, lifestyle factors, or infectious triggers were described in the retrieved CNNM2-focused sources.

6. Mechanism / Pathophysiology

6.1 Current understanding (molecular-to-clinical causal chain)

  1. CNNM2 dysfunction (often LoF or impaired membrane expression/transport activity) (arjona2014cnnm2mutationscause pages 7-9, franken2021thephenotypicand pages 1-4).
  2. Renal magnesium handling impairment → persistent hypomagnesemia that may be only partially correctable (zhang2021cnnm2relateddisordersphenotype pages 5-6, arjona2014cnnm2mutationscause pages 2-4).
  3. Neurodevelopmental dysfunction and epilepsy: seizures and developmental impairment can persist even when magnesium improves, and severe biallelic disease includes structural brain abnormalities consistent with a DEE phenotype (arjona2014cnnm2mutationscause pages 7-9, zhang2021cnnm2relateddisordersphenotype pages 5-6).

6.2 Molecular pathways / processes and suggested ontology terms

Key processes (GO Biological Process suggestions) - Magnesium ion homeostasis (GO:0006874) - Divalent metal ion transport (broad; gene-specific evidence indicates Mg2+ handling) (arjona2014cnnm2mutationscause pages 7-9) - Nervous system development (GO:0007399) (supported by zebrafish/mouse developmental phenotypes) (arjona2014cnnm2mutationscause pages 1-2, bosman2024hypomagnesaemiawithvarying pages 1-2)

Key cell types (Cell Ontology suggestions; inferred from tissue localization statements in evidence) - Distal convoluted tubule epithelial cell (kidney; DCT localization emphasized) (bosman2024hypomagnesaemiawithvarying pages 1-2) - Neuron / cortical neuron (brain expression emphasized, though specific neuronal subtype evidence for CNNM2-DEE is limited in retrieved sources) (bosman2024hypomagnesaemiawithvarying pages 1-2)

6.3 Protein dysfunction

CNNM2 variants can impair Mg2+ transport-related function and/or membrane localization, consistent with LoF mechanisms (arjona2014cnnm2mutationscause pages 7-9, franken2021thephenotypicand pages 1-4).

6.4 Recent developments (2024)

A 2024 genotype–phenotype/functional study emphasizes variability and potential modifiers: “Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable”, and in their dataset “seizures and intellectual disability are absent in 4 out of 7 cases” despite functionally affected variants (bosman2024hypomagnesaemiawithvarying pages 1-2). This strengthens the view that hypomagnesemia alone does not fully explain neurologic outcomes and supports variant-specific effects and/or additional modifiers (bosman2024hypomagnesaemiawithvarying pages 1-2).

7. Anatomical Structures Affected

7.1 Organ/system level

7.2 Tissue/cell level (suggested UBERON/CL)

7.3 Subcellular level (GO Cellular Component suggestions)

8. Temporal Development

8.1 Onset

8.2 Progression/course

9. Inheritance and Population

9.1 Inheritance pattern

9.2 Epidemiology

No population prevalence or incidence estimates were found in the retrieved sources. Available data are case-based aggregations (e.g., 23 cases synthesized in one report; multiple variant catalogs) (zhang2021cnnm2relateddisordersphenotype pages 5-6, bosman2024hypomagnesaemiawithvarying pages 1-2).

10. Diagnostics

10.1 Clinical and laboratory evaluation

10.2 Genetic testing

10.3 Differential diagnosis

Not systematically addressed in retrieved CNNM2-focused evidence; clinically, differential diagnosis overlaps with other genetic DEEs and renal tubulopathies causing electrolyte disturbances.

11. Outcome / Prognosis

Mortality rates and life expectancy were not available in the retrieved evidence.

12. Treatment

12.1 Pharmacotherapy and supportive care

Magnesium supplementation - Oral/IV magnesium is standard but frequently fails to normalize serum magnesium and may not rescue neurologic phenotypes in severe cases (arjona2014cnnm2mutationscause pages 7-9, zhang2021cnnm2relateddisordersphenotype pages 5-6).

Antiseizure medications (ASMs) - In a 23-case synthesis, AD/type-2 patients often respond to ASMs; reported effective options include phenobarbital, valproic acid, clobazam, levetiracetam, lacosamide (zhang2021cnnm2relateddisordersphenotype pages 5-6). - Severe AR/type-3 seizures are often refractory; multiple ASMs may decrease frequency (valproate, levetiracetam, lamotrigine, topiramate), but outcomes are poor (zhang2021cnnm2relateddisordersphenotype pages 5-6).

Other / adjunct - A 2022 report describes CNNM2-related hypomagnesemia “amenable to treatment with spironolactone” in a family with a CNNM2 CBS-domain variant, suggesting a possible adjunct strategy for renal magnesium wasting in some cases (petrakis2022thep.pro482alavariant pages 1-2).

12.2 Experimental therapies / clinical trials

ClinicalTrials.gov searches performed in this run did not yield a clearly CNNM2-HSMR/DEE–specific interventional trial record suitable for citation; no NCT IDs are therefore provided.

12.3 Suggested MAXO terms (treatment actions)

13. Prevention

Primary prevention is not applicable for a highly penetrant Mendelian disorder except via reproductive options: - Genetic counseling for families, including discussion of inheritance (AD vs AR), recurrence risk, and testing options (zhang2021cnnm2relateddisordersphenotype pages 1-2, li2025twonovelvariants pages 1-2).

14. Other Species / Natural Disease

No naturally occurring veterinary CNNM2-DEE syndromes were identified in the retrieved evidence.

15. Model Organisms

Zebrafish - cnnm2 knockdown causes disturbed brain development and abnormal behavior; phenotypes are rescued by wild-type but not mutant cnnm2 constructs, supporting causality and providing a platform for mechanistic and therapeutic testing (arjona2014cnnm2mutationscause pages 1-2).

Mouse - Cnnm2 heterozygous mice show hypomagnesemia consistent with a role in magnesium homeostasis; full knockout is reported as perinatally lethal with developmental defects/brain malformations in referenced summaries (bosman2024hypomagnesaemiawithvarying pages 1-2).

In vitro - HEK293 and renal tubule cell assays support impaired Mg2+ uptake/transport and trafficking defects for pathogenic variants (arjona2014cnnm2mutationscause pages 7-9, franken2021thephenotypicand pages 1-4).

Structured summary table

Table (click to expand)
Entity / synonym (OMIM/MIM) Inheritance / allelic state Core features (HPO terms) Typical seizure onset & seizure features Key neuroimaging findings Key variants / examples Mechanistic insights Management / treatment notes Key references
CNNM2-related disorder; HSMR syndrome = hypomagnesemia, seizures, and intellectual disability syndrome (MIM 616418); related milder entity autosomal dominant renal hypomagnesemia 6 / HOMG6 (MIM 613882); newer synonym HOMGSMR1; causal gene CNNM2 / cyclin M2 (gene MIM 607803) Spectrum includes AD/de novo heterozygous disease and rarer AR homozygous/biallelic disease; severity correlates with inheritance, with AR most severe (franken2021thephenotypicand pages 1-4, petrakis2022thep.pro482alavariant pages 1-2, li2025twonovelvariants pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 1-2, accogli2019cnnm2homozygousmutations pages 1-2) Hypomagnesemia HP:0002917; Seizure HP:0001250; Intellectual disability / global developmental delay HP:0001249 / HP:0001263; Speech delay HP:0000750; Motor delay HP:0001270; Hypotonia HP:0001252 or hypertonia in some reports; Microcephaly HP:0000252; Obesity HP:0001513; Autism / autistic features HP:0000729 in some patients (franken2021thephenotypicand pages 10-12, franken2021thephenotypicand pages 8-10, zhang2021cnnm2relateddisordersphenotype pages 4-4, arjona2014cnnm2mutationscause pages 2-4) Across the spectrum, seizures are common but variable. In heterozygous HSMR, onset is usually infancy (often 4 months–1 year; median onset reported 1.54 years, range birth–16 years in one cohort) and may be generalized or focal; many are ASM-responsive or remit over time. At the severe DEE end, biallelic/AR cases show neonatal onset (1–6 days), refractory seizures, myoclonic and generalized tonic-clonic seizures, and sometimes status epilepticus (franken2021thephenotypicand pages 8-10, zhang2021cnnm2relateddisordersphenotype pages 5-6, zhang2021cnnm2relateddisordersphenotype pages 1-2, arjona2014cnnm2mutationscause pages 2-4) Mild/moderate heterozygous cases often have normal MRI or mild nonspecific white-matter change. Severe AR/DEE cases show brain malformations including dysmyelination / reduced myelination, failure of opercularization, microcephaly, progressive cortical atrophy, widened extra-axial / CSF spaces, reduced white matter, and reported basal ganglia calcification (accogli2019cnnm2homozygousmutations pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 5-6, zhang2021cnnm2relateddisordersphenotype pages 4-4, arjona2014cnnm2mutationscause pages 2-4, arjona2014cnnm2mutationscause pages 7-9) Heterozygous examples: p.Ser269Trp, p.Glu357Lys, p.Thr568Ile, p.Leu48Pro, p.Tyr314*, p.Leu321del, p.Val324Met, p.Leu418Pro, p.Ser795Leu, p.Arg797*; de novo likely pathogenic examples c.814T>C (p.Phe272Leu) and c.976G>C (p.Val326Leu). Severe AR examples include p.Glu122Lys and homozygous c.1642G>A (p.Val548Met) (zhang2021cnnm2relateddisordersphenotype pages 5-6, accogli2019cnnm2homozygousmutations pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 4-4, arjona2014cnnm2mutationscause pages 2-4, arjona2014cnnm2mutationscause pages 7-9, zhang2021cnnm2relateddisordersphenotype pages 2-4) Predominantly loss-of-function / haploinsufficiency with impaired CNNM2-mediated Mg²⁺ transport; several variants reduce plasma-membrane trafficking/expression. CNNM2 is highly expressed in distal convoluted tubule and brain; hypomagnesemia is typically renal. Functional studies showed mutant CNNM2 fails to enhance Mg²⁺ uptake and zebrafish knockdown causes impaired brain development/abnormal motor behavior; mouse models support a developmental CNS role and perinatal lethality/brain malformations in full knockout. DUF21 variants are linked more strongly to CNS phenotypes; CBS2 variants may produce lower serum Mg²⁺ (zhang2021cnnm2relateddisordersphenotype pages 1-2, franken2021thephenotypicand pages 10-12, arjona2014cnnm2mutationscause pages 1-2, arjona2014cnnm2mutationscause pages 7-9, bosman2024hypomagnesaemiawithvarying pages 1-2) Magnesium supplementation (oral and sometimes IV) usually raises serum Mg²⁺ only partially and often does not normalize it; neurologic benefit is limited. Heterozygous cases may respond to phenobarbital, valproate, clobazam, levetiracetam, lacosamide; some seizures remit over time. Severe AR/DEE cases are often drug-refractory, though valproate, levetiracetam, lamotrigine, topiramate may reduce frequency. A recent case report suggested spironolactone may alleviate hypomagnesemia in a milder CNNM2 disorder. No CNNM2-specific clinical trials were identified in the gathered evidence (franken2021thephenotypicand pages 10-12, zhang2021cnnm2relateddisordersphenotype pages 5-6, zhang2021cnnm2relateddisordersphenotype pages 1-2, arjona2014cnnm2mutationscause pages 2-4, petrakis2022thep.pro482alavariant pages 1-2) Arjona et al., 2014, PLoS Genet. DOI: https://doi.org/10.1371/journal.pgen.1004267 (arjona2014cnnm2mutationscause pages 1-2, arjona2014cnnm2mutationscause pages 2-4, arjona2014cnnm2mutationscause pages 7-9); Accogli et al., 2019, Eur J Med Genet. DOI: https://doi.org/10.1016/j.ejmg.2018.07.014 (accogli2019cnnm2homozygousmutations pages 1-2); Franken et al., 2021, Hum Mutat. DOI: https://doi.org/10.1002/humu.24182 (franken2021thephenotypicand pages 10-12, franken2021thephenotypicand pages 8-10, franken2021thephenotypicand pages 1-4); Zhang et al., 2021, Front Pediatr. DOI: https://doi.org/10.3389/fped.2021.699568 (zhang2021cnnm2relateddisordersphenotype pages 1-2, zhang2021cnnm2relateddisordersphenotype pages 5-6, zhang2021cnnm2relateddisordersphenotype pages 2-4); Bosman et al., 2024, Sci Rep. DOI: https://doi.org/10.1038/s41598-024-57061-7 (bosman2024hypomagnesaemiawithvarying pages 1-2)

Table: This table summarizes CNNM2-related HSMR/HOMGSMR1 across the clinical spectrum, highlighting the severe developmental and epileptic encephalopathy end associated with biallelic disease. It compiles inheritance, phenotypes, imaging, representative variants, mechanisms, and management points supported by the gathered evidence.

Key statistics and quotable abstract statements (as captured in evidence snippets)

Evidence gaps / limitations of this run

  • MONDO / Orphanet / MeSH / ICD identifiers were not available in the retrieved full texts.
  • Robust prevalence/incidence estimates were not found.
  • Population allele frequencies (e.g., gnomAD) and validated modifier genes were not captured in the retrieved sources.

References

  1. (accogli2019cnnm2homozygousmutations pages 1-2): Andrea Accogli, Marcello Scala, Annalisa Calcagno, Flavia Napoli, Natascia Di Iorgi, Serena Arrigo, Maria Margherita Mancardi, Giulia Prato, Livia Pisciotta, Mato Nagel, Mariasavina Severino, and Valeria Capra. Cnnm2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations. European journal of medical genetics, 62 3:198-203, Mar 2019. URL: https://doi.org/10.1016/j.ejmg.2018.07.014, doi:10.1016/j.ejmg.2018.07.014. This article has 41 citations and is from a peer-reviewed journal.

  2. (zhang2021cnnm2relateddisordersphenotype pages 5-6): Han Zhang, Ye Wu, and Yuwu Jiang. Cnnm2-related disorders: phenotype and its severity were associated with the mode of inheritance. Frontiers in Pediatrics, Sep 2021. URL: https://doi.org/10.3389/fped.2021.699568, doi:10.3389/fped.2021.699568. This article has 9 citations.

  3. (arjona2014cnnm2mutationscause pages 7-9): Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, Anke L. L. Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G. Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J. M. Bindels, and Joost G. J. Hoenderop. Cnnm2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. PLoS Genetics, 10:e1004267, Apr 2014. URL: https://doi.org/10.1371/journal.pgen.1004267, doi:10.1371/journal.pgen.1004267. This article has 164 citations and is from a domain leading peer-reviewed journal.

  4. (zhang2021cnnm2relateddisordersphenotype pages 1-2): Han Zhang, Ye Wu, and Yuwu Jiang. Cnnm2-related disorders: phenotype and its severity were associated with the mode of inheritance. Frontiers in Pediatrics, Sep 2021. URL: https://doi.org/10.3389/fped.2021.699568, doi:10.3389/fped.2021.699568. This article has 9 citations.

  5. (franken2021thephenotypicand pages 1-4): Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, and Jeroen H. F. Baaij. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin m2 (cnnm2). Human Mutation, 42:473-486, Mar 2021. URL: https://doi.org/10.1002/humu.24182, doi:10.1002/humu.24182. This article has 28 citations and is from a domain leading peer-reviewed journal.

  6. (petrakis2022thep.pro482alavariant pages 1-2): Ioannis Petrakis, Eleni Drosataki, Ioanna Stavrakaki, Kleio Dermitzaki, Dimitra Lygerou, Myrto Konidaki, Christos Pleros, Nikolaos Kroustalakis, Sevasti Maragkou, Ariadni Androvitsanea, Ioannis Stylianou, Ioannis Zaganas, and Kostas Stylianou. The p.pro482ala variant in the cnnm2 gene causes severe hypomagnesemia amenable to treatment with spironolactone. International Journal of Molecular Sciences, 23:7284, Jun 2022. URL: https://doi.org/10.3390/ijms23137284, doi:10.3390/ijms23137284. This article has 7 citations.

  7. (li2025twonovelvariants pages 1-2): Huijuan Li, Jing Liu, Yingdi Liu, Yaning Liu, Kehui Lu, Juan Wen, Huimin Zhu, Desheng Liang, Zhuo Li, and Lingqian Wu. Two novel variants in cnnm2 disrupts magnesium efflux leading to neurodevelopmental disorders. Frontiers in Genetics, Jun 2025. URL: https://doi.org/10.3389/fgene.2025.1600877, doi:10.3389/fgene.2025.1600877. This article has 0 citations and is from a peer-reviewed journal.

  8. (arjona2014cnnm2mutationscause pages 1-2): Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, Anke L. L. Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G. Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J. M. Bindels, and Joost G. J. Hoenderop. Cnnm2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. PLoS Genetics, 10:e1004267, Apr 2014. URL: https://doi.org/10.1371/journal.pgen.1004267, doi:10.1371/journal.pgen.1004267. This article has 164 citations and is from a domain leading peer-reviewed journal.

  9. (tseng2022novelcnnm2mutation pages 1-2): Min-Hua Tseng, Sung-Sen Yang, Chih-Chien Sung, Jhao-Jhuang Ding, Yu-Juei Hsu, Shih-Ming Chu, and Shih-Hua Lin. Novel cnnm2 mutation responsible for autosomal-dominant hypomagnesemia with seizure. Frontiers in Genetics, Jun 2022. URL: https://doi.org/10.3389/fgene.2022.875013, doi:10.3389/fgene.2022.875013. This article has 11 citations and is from a peer-reviewed journal.

  10. (franken2021thephenotypicand pages 10-12): Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, and Jeroen H. F. Baaij. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin m2 (cnnm2). Human Mutation, 42:473-486, Mar 2021. URL: https://doi.org/10.1002/humu.24182, doi:10.1002/humu.24182. This article has 28 citations and is from a domain leading peer-reviewed journal.

  11. (bosman2024hypomagnesaemiawithvarying pages 1-2): Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, and Joost G. J. Hoenderop. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous cnnm2 variants. Scientific Reports, Mar 2024. URL: https://doi.org/10.1038/s41598-024-57061-7, doi:10.1038/s41598-024-57061-7. This article has 2 citations and is from a peer-reviewed journal.

  12. (zhang2021cnnm2relateddisordersphenotype pages 4-4): Han Zhang, Ye Wu, and Yuwu Jiang. Cnnm2-related disorders: phenotype and its severity were associated with the mode of inheritance. Frontiers in Pediatrics, Sep 2021. URL: https://doi.org/10.3389/fped.2021.699568, doi:10.3389/fped.2021.699568. This article has 9 citations.

  13. (arjona2014cnnm2mutationscause pages 2-4): Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, Anke L. L. Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G. Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J. M. Bindels, and Joost G. J. Hoenderop. Cnnm2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. PLoS Genetics, 10:e1004267, Apr 2014. URL: https://doi.org/10.1371/journal.pgen.1004267, doi:10.1371/journal.pgen.1004267. This article has 164 citations and is from a domain leading peer-reviewed journal.

  14. (franken2021thephenotypicand pages 8-10): Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, and Jeroen H. F. Baaij. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin m2 (cnnm2). Human Mutation, 42:473-486, Mar 2021. URL: https://doi.org/10.1002/humu.24182, doi:10.1002/humu.24182. This article has 28 citations and is from a domain leading peer-reviewed journal.

  15. (li2021casereportcnnm2 pages 5-6): Xiucui Li, Shijia Bao, Wei Wang, Xulai Shi, Ying Hu, Feng Li, Qianlei Zhao, Feixia Zheng, and Zhongdong Lin. Case report: cnnm2 mutations cause damaged brain development and intractable epilepsy in a patient without hypomagnesemia. Frontiers in Genetics, Aug 2021. URL: https://doi.org/10.3389/fgene.2021.705734, doi:10.3389/fgene.2021.705734. This article has 11 citations and is from a peer-reviewed journal.

  16. (zhang2021cnnm2relateddisordersphenotype pages 2-4): Han Zhang, Ye Wu, and Yuwu Jiang. Cnnm2-related disorders: phenotype and its severity were associated with the mode of inheritance. Frontiers in Pediatrics, Sep 2021. URL: https://doi.org/10.3389/fped.2021.699568, doi:10.3389/fped.2021.699568. This article has 9 citations.