De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy - Li, T.; Cheng, M.; Wang, J.; Hong, S.; Li, M.; Liao, S.; Xie, L.; Jiang, L. (Genes, brain and behavior, 2018)
Keywords: Antiepileptic agents; Asian Continental Ancestry Group - genetics; Child; Child, Preschool; Children; China; early onset epileptic encephalopathy; Electroencephalography; Encephalopathy; Epilepsy; Etiology; Etiracetam; Female; High fat diet; Humans; Infant; Infant, Newborn; Ketogenesis; Low carbohydrate diet; Male; Munc18 Proteins - genetics; Munc18 Proteins - metabolism; Mutation; Seizures; Spasms, Infantile - genetics; Spasms, Infantile - metabolism; Syntaxin; syntaxin‐binding protein 1; treatment; China; mutation; treatment; early onset epileptic encephalopathy; syntaxin-binding protein 1