Epileptic encephalopathyGene: BSCL2
Three biallelic variants were reported in encephalopathy, progressive, with or without lipodystrophy 615924 which includes seizures, cognitive decline and death in childhood. The variants were found in one homozygous case and two unrelated compound heterozygotes (one inferred from parental genotypes). Variant c.985C>T p.E329* was identified as a potiential founder variant (PMID 23564749).
14 Dec 2017, 4:45 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Encephalopathy, progressive, with or without lipodystrophy 615924; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Silver spastic paraplegia syndrome 270685
This gene has been classified as Green List (High Evidence).
BSCL2 was added to Epileptic encephalopathy panel. Sources: Literature
BSCL2 was created by Sarah Leigh