Incidentalome

Gene: SCN1B

I don't know

All families reported to carry the C121W mutation which seems to be a common mutation in SCN1B that leads to epilepsy. Found in the European Non-Finnish population – PopMax AF 0.00305% (gnomAD).

PMID: 9697698 – Large multi-generational tasmanian family, C121W heterozygous variant was identified. An in vitro functional study on the voltage-gated Na+ channels in the single immunoglobulin-like fold motifs that showed that the high conserved cysteine residues disrupt the disulfide bridge formation.

PMID: 17020904 – Multiple unrelated families reported to carry the highly conserved cysteine residue mutation.
PMID: 12011299 – 4 individuals from an unrelated Australian family present with the same C121W heterozygous mutation.

Created: 31 Mar 2023, 4:13 a.m. | Last Modified: 31 Mar 2023, 4:13 a.m.

Panel Version: 0.229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Generalized epilepsy with febrile seizures plus, type 1 (MONDO:0018214; MIM 604233)

Publications

• 9697698
• 17020904
• 12011299