A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. [electronic resource]
Producer: 20140925Description: 249-53 p. digitalISSN:- 1708-8283
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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