Epilepsy Journal

Kawasaki Municipal Takeda, Kawasaki Municipal Tama Hospital, Tama-ku, Kawasaki City, Kanagawa, Japan

Publications

• Case Report   
  Development of West Syndrome Linked to Gene Mutation: A Case Report
  Author(s): Kanako Takeda*
  
  The Sec1/Munc18-1 protein family, which includes significant regulators of the secretory and synaptic vesicle fusion machinery governing hormonal and neuronal transmission, respectively, includes syntaxin-binding protein 1 (STXBP1). Numerous neurological illnesses are linked to STXBP1 pathogenic mutations. Here, we describe the case of a Japanese girl who was born at 40 weeks gestation without experiencing neonatal hypoxia and who had a STXBP1 gene mutation. She experienced generalised seizures and epilepsy at the age of 15 days. She first displayed a series of nodding spasms around the age of 88 days, with the frequency of the seizures rapidly rising. She appeared with developmental regression and the interictal EEG revealed hypsarrhythmia. Genetic testing was carried out at the age of 1.5 years, and mutational analysis identified a STXBP1 gene mutation. She w.. Read More»
  DOI: 10.37421/2472-0895.2022.8.167

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