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 was subsequently determined to have developmental and epileptic encephalopathy, exhibiting the clinical traits of West syndrome brought on by the STXBP1 gene mutation. Her development has remained regressive despite the fact that medication therapy has decreased the frequency of epileptic seizures. It is still unclear how the phenotypic and the type and location of genetic aberration relate to one another. Future research should look at the link between genotype and phenotype as well as the pathophysiology that underlies it in order to clarify the causes of the various phenotype-determining factors.
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