Ontology highlight
ABSTRACT:
SUBMITTER: Krenn M
PROVIDER: S-EPMC6856628 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Annals of clinical and translational neurology 20190930 11
Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation, we report monozygotic twin sisters with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo variant in GABRA1. One experienced juvenile absence seizures promptly responding to first-line medication, whereas the second develo ...[more]