Incidentalome
Gene: SCN1B
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
gene: SCN1B was added gene: SCN1B was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1B was set to Unknown