A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. [electronic resource]
- Journal of child neurology Feb 2014
- 249-53 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1708-8283
10.1177/0883073813506936 doi
Amino Acid Sequence Anticonvulsants--therapeutic use Brain--drug effects Child, Preschool Electroencephalography Humans Infant Male Molecular Sequence Data Munc18 Proteins--chemistry Mutation, Missense Point Mutation Seizures--drug therapy Sequence Alignment Spasms, Infantile--drug therapy Treatment Outcome Vigabatrin--therapeutic use