SCN1A
E874307
SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
All labels observed (1)
| Label | Occurrences |
|---|---|
| SCN1A canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T10609954 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
Target entity: SCN1A Context triple: [Dravet syndrome, isAssociatedWithGene, SCN1A]
-
A.
SNMG2
SNMG2 is a multinational, high-readiness NATO naval task group that conducts maritime security, deterrence, and crisis-response operations primarily in the Mediterranean and surrounding waters.
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B.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
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C.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
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D.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
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E.
HTT gene
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
Target entity: SCN1A Target entity description: SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
-
A.
SNMG2
SNMG2 is a multinational, high-readiness NATO naval task group that conducts maritime security, deterrence, and crisis-response operations primarily in the Mediterranean and surrounding waters.
-
B.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
-
C.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
D.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
-
E.
HTT gene
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
- F. None of above. chosen
Statements (79)
| Predicate | Object |
|---|---|
| instanceOf | human gene ⓘ |
| alias |
NAv1.1 alpha subunit
NERFINISHED
ⓘ
Nav1.1 NERFINISHED ⓘ sodium channel, voltage-gated, type I, alpha subunit NERFINISHED ⓘ |
| associatedWithDisease |
Dravet syndrome
NERFINISHED
ⓘ
GEFS+ NERFINISHED ⓘ epileptic encephalopathy ⓘ familial hemiplegic migraine type 3 ⓘ febrile seizures ⓘ generalized epilepsy with febrile seizures plus ⓘ severe myoclonic epilepsy of infancy NERFINISHED ⓘ |
| biologicalProcess |
generation of action potential
ⓘ
neuronal excitability ⓘ |
| cellularComponent |
axon initial segment
ⓘ
nodes of Ranvier ⓘ plasma membrane ⓘ |
| chromosomalBand | 2q24.3 ⓘ |
| clinicalTesting | genetic testing for epilepsy ⓘ |
| contraindicatedDrugClass | sodium channel–blocking antiepileptic drugs in Dravet syndrome ⓘ |
| drugResponse | sensitivity to sodium channel blockers ⓘ |
| encodes |
Nav1.1
NERFINISHED
ⓘ
neuronal voltage-gated sodium channel alpha subunit ⓘ sodium channel protein type 1 subunit alpha NERFINISHED ⓘ |
| EnsemblGeneID | ENSG00000144285 ⓘ |
| EntrezGeneID | 6323 ⓘ |
| expressedIn |
GABAergic interneurons
NERFINISHED
ⓘ
central nervous system ⓘ |
| geneType | protein coding ⓘ |
| hasOrtholog | Scn1a (mouse) NERFINISHED ⓘ |
| HGNCID | HGNC:10585 NERFINISHED ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| locatedOnChromosome | chromosome 2 ⓘ |
| molecularFunction |
sodium ion transmembrane transporter activity
ⓘ
voltage-gated sodium channel activity ⓘ |
| mutationEffect |
haploinsufficiency
ⓘ
loss of function ⓘ |
| OMIMID | 182389 ⓘ |
| organism | Homo sapiens NERFINISHED ⓘ |
| pathway |
neuronal system
ⓘ
voltage-gated sodium channel activity pathway ⓘ |
| proteinFamily | voltage-gated sodium channel alpha subunit family ⓘ |
| RefSeq_mRNA |
NM_001165963
ⓘ
NM_001165964 ⓘ NM_001165965 ⓘ NM_001165966 ⓘ NM_001165967 ⓘ NM_001165968 ⓘ NM_001165969 ⓘ NM_001165970 ⓘ NM_001165971 ⓘ NM_001165972 ⓘ NM_001165973 ⓘ NM_001165974 ⓘ NM_001165975 ⓘ NM_001165976 ⓘ NM_001165977 ⓘ NM_001165978 ⓘ NM_001165979 ⓘ NM_001165980 ⓘ NM_001165981 ⓘ NM_001165982 ⓘ NM_001165983 ⓘ NM_001165984 ⓘ NM_001165985 ⓘ NM_001165986 ⓘ NM_001165987 ⓘ NM_001165988 ⓘ NM_001165989 ⓘ NM_001165990 ⓘ NM_001165991 ⓘ NM_001165992 ⓘ NM_001165993 ⓘ NM_001165994 ⓘ NM_001165995 ⓘ NM_001165996 ⓘ NM_001165997 ⓘ NM_001165998 ⓘ NM_001165999 ⓘ |
| UniProtID | P35498 ⓘ |
How these facts were elicited
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You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Subject: SCN1A Description of subject: SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.