SCN1B

sodium voltage-gated channel beta subunit 1

Ensembl:
ENSG00000105711
OMIM:
600235

Cilia effects upon perturbation of SCN1B

Ciliogenesis screen results (1 screen)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.69) PMID:26167766

Phenotypes

Mouse phenotype:
preweaning lethality; incomplete penetrance
Human ciliopathy phenotype:
Generalized epilepsy with febrile seizures-plus; generalized epilepsy with febrile seizures plus

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

Ciliary associated gene

Functional category

  • Motile cilium & axoneme
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in SCN1B cause Juvenile Myoclonic Epilepsy (PMID: 39616287).