Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

ABSTRACT: Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythm

SUBMITTER: Chatron N 

PROVIDER: S-EPMC7241960 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature