Gene Information
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
SCN2A variants are associated with 7 diseases including early-infantile DEE and obsolete Dravet syndrome and 5 others, with 38 documented clinical phenotypes.
The SCN2A gene is associated with 7 medical conditions, including:
early-infantile DEE
MONDO:0800491
obsolete Dravet syndrome
MONDO:0011794
seizures, benign familial infantile, 3
MONDO:0011904
benign familial infantile epilepsy
MONDO:0017615
alternating hemiplegia of childhood
MONDO:0016241
malignant migrating partial seizures of infancy
MONDO:0017385
generalized epilepsy with febrile seizures plus
MONDO:0018214
Research has identified 38 phenotypic features associated with SCN2A variants:
Global developmental delay
HP:0001263
Vomiting
HP:0002013
Bilateral tonic-clonic seizure
HP:0002069
Encephalopathy
HP:0001298
Autosomal dominant inheritance
HP:0000006
Hyperkinetic movements
HP:0002487
Episodic ataxia
HP:0002131
Bilateral tonic-clonic seizure
HP:0002069
Bilateral tonic-clonic seizure with focal onset
HP:0007334
Autosomal dominant inheritance
HP:0000006
Focal impaired awareness seizure
HP:0002384
Infantile onset
HP:0003593
Cerebellar edema
HP:0030915
Seizure
HP:0001250
Global brain atrophy
HP:0002283
ClinVar contains 10 variants associated with SCN2A. Below are some notable variants:
NM_001040142.2(SCN2A):c.3425A>G (p.Glu1142Gly)
Uncertain significanceVCV004527897
Review: criteria provided, single submitter
NM_001040142.2(SCN2A):c.4025T>G (p.Leu1342Arg)
Likely pathogenicVCV004292476
Review: criteria provided, single submitter
NM_001040142.2(SCN2A):c.2788C>G (p.His930Asp)
Likely pathogenicVCV004292323
Review: criteria provided, single submitter
NM_001040142.2(SCN2A):c.712_735del (p.Val238_Val245del)
Likely pathogenicVCV004291734
Review: criteria provided, single submitter
NM_001040142.2(SCN2A):c.3205A>T (p.Lys1069Ter)
Likely pathogenicVCV004291719
Review: criteria provided, single submitter
There are 366 publications about SCN2A indexed in PubMed. Below are some recent papers:
RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Drongitis D, Verrillo L, de Bellis A
PMID: 41244709
•
2025
•
Front Mol Biosci
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M, Wettschurack K, Halurkar MS
PMID: 41162233
•
2025 Oct 28
•
Trends Mol Med
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D, Kara B, Ozer T
PMID: 41153369
•
2025 Sep 28
•
Genes (Basel)
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
PMID: 41151066
•
2025 Sep 30
•
Biosci Rep
Atypical cortical feedback underlies failure to process contextual information in the superior colliculus of Scn2a(+/-) autism model mice.
Ferrarese L, Asari H
PMID: 41027944
•
2025 Sep 30
•
Nat Commun
Get instant, comprehensive insights on SCN2A variants with Perception.
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Last updated: 11/20/2025