Romaniello, Romina

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