Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

Ying YangWenshu XiangweiXiaoli ZhangJiangxi XiaoJiaoyang ChenXiaoling YangTianming JiaZhi-Xian YangYuwu JiangYuehua Zhang

Published in: Developmental medicine and child neurology (2020)

The most common phenotypes of patients with GABRB2 variants include early onset of seizure and fever sensitivity. Febrile seizures and febrile seizures plus are new phenotypes of GABRB2 variants. The phenotypic spectrum of GABRB2 variants ranges from mild febrile seizures to severe epileptic encephalopathy.

Keyphrases

early onset
copy number
late onset
urinary tract infection
temporal lobe epilepsy
chemotherapy induced
gene expression
genome wide