Developmental Brain Disorder Gene Database

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Missense

SCN2A

HGNC:10588 (protein-coding gene)

sodium voltage-gated channel alpha subunit 2

Unique Cases:
95
Disorders:
ID, ASD, EP, ADHD, SCZ, CP
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

Gene Function
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By simi... (Source: Uniprot)
Previous symbols
SCN2A1, SCN2A2
Alias symbols
Nav1.2, HBSCII, HBSCI
Chromosomal Location
2q24.3
Genomic Coordinates
GRCh37:chr2:166095912-166248820
GRCh38:chr2:165208056-165392310
Associated Disorders
Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder, Cerebral Palsy

Predictive Scores:

HI Score (Decipher)

4.08

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.13

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Definitive3 Strong4 Supportive6

Publications:

Howrigan DP et. al., Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations., Nat Neurosci, 2020
Rochtus A et. al., Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort., Epilepsia, 2020
Na JH et. al., Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy., Brain Dev, 2020
Tang S et. al., Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures., Epilepsia, 2020
Stödberg T et. al., Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study., Epilepsia, 2020
Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020
Møller RS et. al., Parental mosaicism in epilepsies due to alleged de novo variants., Epilepsia, 2019
Costain G et. al., Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy., Neuroscience, 2019
Ostrander BEP et. al., Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy., NPJ Genom Med, 2018
Wang J et. al., Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome., Seizure, 2019
Demos M et. al., Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy., Front Neurol, 2019
Papuc SM et. al., The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study., Eur J Hum Genet, 2019
Jiang YH et. al., Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing., Am J Hum Genet, 2013
Jang SS et. al., Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life., Front Neurol, 2019
Peng J et. al., Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy., CNS Neurosci Ther, 2019
Halvardson J et. al., Mutations in HECW2 are associated with intellectual disability and epilepsy., J Med Genet, 2016
Palmer EE et. al., Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness., Mol Genet Genomic Med, 2018
Yuskaitis CJ et. al., Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation., Pediatr Neurol, 2018
Liu XW et. al., The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing., Clin Neurol Neurosurg, 2018
Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019
Bruun TUJ et. al., Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing., Genet Med, 2018
Long S et. al., The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children., Front Neurol, 2019
Sahli M et. al., Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series., J Med Case Rep, 2019
Chérot E et. al., Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients., Clin Genet, 2018
Ko A et. al., Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy., Epilepsy Res, 2018
Balciuniene J et. al., Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy., JAMA Netw Open, 2019
Feliciano P et. al., Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes., NPJ Genom Med, 2019
Vlachou V et. al., SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders., J Genet, 2019
Takata A et. al., Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy., Nat Commun, 2019
Su DJ et. al., SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet., Brain Dev, 2018
Suddaby JS et. al., Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum., Psychiatr Genet, 2019
Zaganas I et. al., Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes., Epilepsy Behav Rep, 2021
Jiang T et. al., Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy., Front Mol Neurosci, 2021
May HJ et. al., Genetic testing in individuals with cerebral palsy., Dev Med Child Neurol, 2021
Takezawa Y et. al., Genomic analysis identifies masqueraders of full-term cerebral palsy., Ann Clin Transl Neurol, 2018
Lee HF et. al., Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders., Dev Med Child Neurol, 2021
Moreno-De-Luca A et. al., Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy., JAMA, 2021
Zhao X et. al., Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing., Neurol Sci, 2022
et. al., , ,

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
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