GeneBe

SCN1A

sodium voltage-gated channel alpha subunit 1, the group of Sodium voltage-gated channel alpha subunits

Basic information

Region (hg38): 2:165984641-166182806

Previous symbols: [ "SCN1", "FEB3" ]

Links

ENSG00000144285 ∙ NCBI:6323 ∙ OMIM:182389 ∙ HGNC:10585 ∙ Uniprot:P35498 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • arthrogryposis (Moderate), mode of inheritance: AD
  • developmental and epileptic encephalopathy, 6 (Definitive), mode of inheritance: AD
  • generalized epilepsy with febrile seizures plus, type 2 (Definitive), mode of inheritance: AD
  • migraine, familial hemiplegic, 3 (Strong), mode of inheritance: AD
  • developmental and epileptic encephalopathy, 6 (Definitive), mode of inheritance: AD
  • Lennox-Gastaut syndrome (Supportive), mode of inheritance: AD
  • myoclonic-astatic epilepsy (Supportive), mode of inheritance: Unknown
  • familial or sporadic hemiplegic migraine (Supportive), mode of inheritance: AD
  • Dravet syndrome (Supportive), mode of inheritance: AD
  • generalized epilepsy with febrile seizures plus (Supportive), mode of inheritance: AD
  • malignant migrating partial seizures of infancy (Supportive), mode of inheritance: AD
  • migraine, familial hemiplegic, 3 (Strong), mode of inheritance: AD
  • developmental and epileptic encephalopathy, 6 (Strong), mode of inheritance: AD
  • generalized epilepsy with febrile seizures plus, type 2 (Strong), mode of inheritance: AD
  • developmental and epileptic encephalopathy (Strong), mode of inheritance: AD
  • generalized epilepsy with febrile seizures plus (Definitive), mode of inheritance: AD
  • Dravet syndrome (Definitive), mode of inheritance: AD
  • familial hemiplegic migraine (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Migraine, familial hemiplegic 3ADNeurologic; PharmacogenomicVasoconstricting agents (due to risk of stroke) and cerebral angiography (due to risk of precipitation of attack) should be avoidedNeurologic10486327; 10852559; 10742094; 11524484; 15277634; 16054936; 16326807; 16505326; 17190949; 17347258; 20301562; 19522081; 19332696; 28331464
For conditions involving seizures, optimal seizure control is beneficial, and awareness of genetic causes may help with medication selection

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SCN1A gene.

  • Early infantile epileptic encephalopathy with suppression bursts (719 variants)
  • Severe myoclonic epilepsy in infancy (332 variants)
  • not provided (301 variants)
  • Generalized epilepsy with febrile seizures plus, type 2 (69 variants)
  • Inborn genetic diseases (35 variants)
  • Seizure (17 variants)
  • Migraine, familial hemiplegic, 3 (16 variants)
  • Generalized epilepsy with febrile seizures plus, type 1 (8 variants)
  • SCN1A-related disorder (7 variants)
  • Autosomal dominant epilepsy (7 variants)
  • Developmental and epileptic encephalopathy 6B (6 variants)
  • Developmental and epileptic encephalopathy, 6 (4 variants)
  • Epileptic encephalopathy (4 variants)
  • Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2 (3 variants)
  • SCN1A Seizure Disorders (3 variants)
  • Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 (3 variants)
  • Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B (2 variants)
  • Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy (2 variants)
  • Epilepsy (2 variants)
  • Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy (2 variants)
  • Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B (2 variants)
  • Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 (2 variants)
  • Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 (1 variants)
  • Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy (1 variants)
  • Myoclonic encephalopathy (1 variants)
  • See cases (1 variants)
  • Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy (1 variants)
  • Generalized epilepsy (1 variants)
  • Developmental and epileptic encephalopathy, 76 (1 variants)
  • Primary generalized epilepsy (1 variants)
  • Seizure;Global developmental delay (1 variants)
  • 11 conditions (1 variants)
  • Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B (1 variants)
  • Febrile seizures, familial, 3a (1 variants)
  • Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3 (1 variants)
  • Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B (1 variants)
  • Familial hemiplegic migraine (1 variants)
  • Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 (1 variants)
  • Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy (1 variants)
  • Seizure;Intellectual disability, mild (1 variants)
  • Focal impaired awareness seizure (1 variants)
  • Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 (1 variants)
  • Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2 (1 variants)
  • Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3 (1 variants)
  • Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Febrile seizures, familial, 1 (1 variants)
  • Febrile seizure (within the age range of 3 months to 6 years) (1 variants)
  • Severe myoclonic epilepsy in infancy;Familial hemiplegic migraine;Generalized epilepsy with febrile seizures plus;Early infantile epileptic encephalopathy with suppression bursts (1 variants)
  • Global developmental delay;Seizure;Autism (1 variants)
  • Acute encephalopathy;Severe myoclonic epilepsy in infancy (1 variants)
  • Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3 (1 variants)
  • Developmental and epileptic encephalopathy, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCN1A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
24
clinvar
429
clinvar
8
clinvar
 462
missense
369
clinvar
490
clinvar
1089
clinvar
57
clinvar
6
clinvar
 2011
nonsense
234
clinvar
24
clinvar
3
clinvar
 261
start loss
2
clinvar
 2
frameshift
422
clinvar
55
clinvar
9
clinvar
 486
inframe indel
20
clinvar
15
clinvar
24
clinvar
 59
splice donor/acceptor (+/-2bp)
112
clinvar
34
clinvar
3
clinvar
 149
splice region
19
18
60
55
2
 154
non coding
3
clinvar
3
clinvar
115
clinvar
267
clinvar
113
clinvar
 501
Total 1162 622 1267 753 127

Highest pathogenic variant AF is 0.0000131

Variants in SCN1A

This is a list of pathogenic ClinVar variants found in the SCN1A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-165989256-G-A Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 12, 2018)331855
2-165989284-G-A Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (May 14, 2021)331856
2-165989293-A-G Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (May 24, 2021)331857
2-165989295-C-T Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 13, 2018)331858
2-165989372-GA-G Familial hemiplegic migraine • Epilepsy Conflicting classifications of pathogenicity (Oct 01, 2022)331859
2-165989381-A-T Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Conflicting classifications of pathogenicity (Nov 01, 2023)331860
2-165989450-C-T Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Conflicting classifications of pathogenicity (Jan 12, 2018)331861
2-165989451-G-A Generalized epilepsy with febrile seizures plus, type 2 • Migraine, familial hemiplegic, 3 Uncertain significance (Apr 28, 2017)893817
2-165989495-A-G Likely benign (May 19, 2021)1325975
2-165989506-G-A Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Benign (May 14, 2021)331862
2-165989552-T-C Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (May 14, 2021)331863
2-165989592-G-A Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (May 23, 2021)331864
2-165989763-C-T Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 13, 2018)331865
2-165989879-T-A Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 12, 2018)894730
2-165989920-C-T Generalized epilepsy with febrile seizures plus, type 2 • Migraine, familial hemiplegic, 3 Uncertain significance (Jan 12, 2018)894731
2-165989948-C-T Generalized epilepsy with febrile seizures plus, type 2 • Migraine, familial hemiplegic, 3 Uncertain significance (Jan 13, 2018)892748
2-165990021-C-T Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (Jan 12, 2018)331866
2-165990093-T-C Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 13, 2018)892749
2-165990101-C-G Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Mar 30, 2018)892750
2-165990120-A-C Generalized epilepsy with febrile seizures plus, type 2 • Migraine, familial hemiplegic, 3 Uncertain significance (Jan 13, 2018)893545
2-165990124-A-G Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 12, 2018)331867
2-165990214-T-A Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Likely benign (Apr 27, 2017)331868
2-165990220-A-G Epilepsy • Migraine, familial hemiplegic, 3 • Generalized epilepsy with febrile seizures plus, type 2 Benign/Likely benign (Jan 12, 2018)331869
2-165990268-A-G Migraine, familial hemiplegic, 3 • Epilepsy • Generalized epilepsy with febrile seizures plus, type 2 Uncertain significance (Jan 12, 2018)331870
2-165990319-G-A Generalized epilepsy with febrile seizures plus, type 2 • Migraine, familial hemiplegic, 3 Uncertain significance (Mar 30, 2018)893842

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SCN1Aprotein_codingprotein_codingENST00000303395 26138854
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.002.05e-13125733051257380.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense5.225901.07e+30.5510.000058113399
Missense in Polyphen189532.140.355176820
Synonymous0.8763643860.9430.00002243751
Loss of Function8.52288.50.02260.000005641020

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006160.0000615
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002650.0000264
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. {ECO:0000250|UniProtKB:A2APX8}.;
Disease
DISEASE: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444, ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484, ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936, ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402, ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999, ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291, ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552, ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. {ECO:0000269|PubMed:11359211, ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:12754708, ECO:0000269|PubMed:12821740, ECO:0000269|PubMed:14504318, ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:14738421, ECO:0000269|PubMed:15087100, ECO:0000269|PubMed:15944908, ECO:0000269|PubMed:16122630, ECO:0000269|PubMed:16458823, ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17129991, ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18639757, ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:20110217, ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:20452746, ECO:0000269|PubMed:20522430, ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:22092154, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28544625}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Intractable childhood epilepsy with generalized tonic- clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. {ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:16210358, ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23708187}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:16054936, ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921, ECO:0000269|PubMed:19332696}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos syndrome, a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an electroencephalogram that shows shifting and/or multiple foci, often with occipital predominance. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Cardiorespiratory arrest is exceptional. {ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291, ECO:0000269|PubMed:19522081}.;
Pathway
Dopaminergic synapse - Homo sapiens (human);Developmental Biology;Phase 0 - rapid depolarisation;Cardiac conduction;Muscle contraction;Interaction between L1 and Ankyrins;L1CAM interactions;Axon guidance (Consensus)

Recessive Scores

pRec
0.214

Intolerance Scores

loftool
0.000138
rvis_EVS
-1.43
rvis_percentile_EVS
4.03

Haploinsufficiency Scores

pHI
0.258
hipred
Y
hipred_score
0.740
ghis
0.565

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.727

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Scn1a
Phenotype
growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Zebrafish Information Network

Gene name
scn1laa
Affected structure
Rohon-Beard neuron
Phenotype tag
abnormal
Phenotype quality
membrane potential

Gene ontology

Biological process
sodium ion transport;adult walking behavior;neuronal action potential propagation;neuronal action potential;regulation of ion transmembrane transport;sodium ion transmembrane transport;neuromuscular process controlling posture;detection of mechanical stimulus involved in sensory perception of pain;cardiac muscle cell action potential involved in contraction;membrane depolarization during action potential
Cellular component
voltage-gated sodium channel complex;nucleoplasm;plasma membrane;intercalated disc;nuclear body;Z disc;T-tubule;axon;node of Ranvier;neuronal cell body;axon initial segment
Molecular function
voltage-gated ion channel activity;voltage-gated sodium channel activity