Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Nav1.1
Sodium channel, voltage-gated, type I, alpha subunit |
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
Generalized epilepsy with febrile seizures plus Familial hemiplegic migraine |
| gptkbp:clinicalTrialPhase |
Genetic testing for epilepsy
|
| gptkbp:discoveredBy |
William A. Catterall
|
| gptkbp:encodes |
Sodium channel protein type 1 subunit alpha
|
| gptkbp:Entrez_Gene_ID |
6323
|
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
Voltage-gated sodium channel activity
|
| gptkbp:HGNC_ID |
HGNC:10585
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCN1A gene
|
| gptkbp:locatedOnChromosome |
2q24.3
|
| gptkbp:mutationAssociatedWith |
Epileptic encephalopathy
|
| gptkbp:OMIM |
182389
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Scn1a
|
| gptkbp:proteinFamily |
Voltage-gated sodium channels
|
| gptkbp:UniProtID |
P35498
|
| gptkbp:bfsParent |
gptkb:Dravet_syndrome
|
| gptkbp:bfsLayer |
7
|