De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy

• Published in: Genes, brain and behavior Vol. 17; no. 8; pp. e12492 - n/a
• Main Authors: Li, T., Cheng, M., Wang, J., Hong, S., Li, M., Liao, S., Xie, L., Jiang, L.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2018; John Wiley & Sons, Inc
• Subjects: 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

To detect syntaxin‐binding protein 1 (STXBP1) mutations in Chinese patients with early onset epileptic encephalopathy (EOEE) of unknown etiology. Targeted next‐generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. A filtering process was a...