Ontology highlight
ABSTRACT:
SUBMITTER: Ewans LJ
PROVIDER: S-EPMC5477359 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20170315 6
We report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). The IQSEC2 variant was identified in both surviving affected sisters but in ...[more]