Gene Information
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
SCN1A variants are associated with 7 diseases including generalized epilepsy with febrile seizures plus and epilepsy with myoclonic atonic seizures and 5 others, with 80 documented clinical phenotypes.
The SCN1A gene is associated with 7 medical conditions, including:
generalized epilepsy with febrile seizures plus
MONDO:0018214
epilepsy with myoclonic atonic seizures
MONDO:0014633
malignant migrating partial seizures of infancy
MONDO:0017385
Lennox-Gastaut syndrome
MONDO:0016532
familial or sporadic hemiplegic migraine
MONDO:0018925
obsolete Dravet syndrome
MONDO:0011794
undetermined early-onset epileptic encephalopathy
MONDO:0018614
Research has identified 80 phenotypic features associated with SCN1A variants:
Young adult onset
HP:0011462
Abnormal pyramidal sign
HP:0007256
Bilateral tonic-clonic seizure
HP:0002069
Generalized myoclonic seizure
HP:0002123
Spasmus nutans
HP:0010533
Focal impaired awareness seizure
HP:0002384
Blindness
HP:0000618
Motor stereotypy
HP:0000733
Cerebral atrophy
HP:0002059
Autosomal dominant inheritance
HP:0000006
Brisk reflexes
HP:0001348
Myoclonic seizure
HP:0032794
Dystonia
HP:0001332
Generalized non-motor (absence) seizure
HP:0002121
Hypertelorism
HP:0000316
ClinVar contains 10 variants associated with SCN1A. Below are some notable variants:
NM_001165963.4(SCN1A):c.4061G>A (p.Cys1354Tyr)
PathogenicVCV004528262
Review: criteria provided, single submitter
NM_001165963.4(SCN1A):c.5812G>C (p.Ala1938Pro)
Uncertain significanceVCV004527853
Review: criteria provided, single submitter
NM_001165963.4(SCN1A):c.1418C>A (p.Pro473His)
Uncertain significanceVCV004527600
Review: criteria provided, single submitter
NM_001165963.4(SCN1A):c.4028C>G (p.Ala1343Gly)
PathogenicVCV004527372
Review: criteria provided, single submitter
NM_001165963.4(SCN1A):c.79del (p.Arg27fs)
Likely pathogenicVCV004293845
Review: criteria provided, single submitter
There are 818 publications about SCN1A indexed in PubMed. Below are some recent papers:
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN, Malysheva KS, Laptiev SA
PMID: 41255692
•
2025 Dec 9
•
World J Clin Pediatr
Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study.
Sullivan J, Perry MS, Scheffer IE
PMID: 41251148
•
2025 Nov 17
•
Epilepsia
RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Drongitis D, Verrillo L, de Bellis A
PMID: 41244709
•
2025
•
Front Mol Biosci
Natural History of Children and Adolescents With Dravet Syndrome: A 24-Month Follow-Up.
Sullivan J, Wirrell EC, Knupp KG
PMID: 41237355
•
2025 Dec 9
•
Neurology
Fetal Isolated Unilateral Multicystic Dysplastic Kidney Identified on Second Trimester Ultrasound: Genetic Investigation Results at a Single Referral Center.
Jing XY, Yu QX, Xiao ZQ
PMID: 41192949
•
2025 Nov 5
•
Prenat Diagn
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Last updated: 11/20/2025