Article
Novel mutation of SIK1 gene causing a mild form of pediatric epilepsy in a Chinese patient.
Metabolic brain disease - 1 Apr 2022
Xu Wangshu, Zhang Wenqun, Cui Lili, Shi Lei, Zhu Bin, Lyu Tina-Jie, Ma Wenping
Abstract excerpt
Developmental and Epileptic Encephalopathy (DEE) is a group of disorders affecting children at early stages of infancy, which is characterized by frequent seizures, epileptiform activity on EEG, and developmental delayor regression. Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.