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Institute for the Molecular Pathomechanisms of Epilepsy","award":["KAKENHI"],"award-info":[{"award-number":["KAKENHI"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["20FC1039"],"award-info":[{"award-number":["20FC1039"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["21FC1005"],"award-info":[{"award-number":["21FC1005"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["JP21ek0109505"],"award-info":[{"award-number":["JP21ek0109505"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["20H03443"],"award-info":[{"award-number":["20H03443"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["20H03651"],"award-info":[{"award-number":["20H03651"]}]},{"name":"Fukuoka University for The Research Institute for the Molecular Pathomechanisms of Epilepsy","award":["20H04506"],"award-info":[{"award-number":["20H04506"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Syntaxin-binding protein1 (STXBP1) is a member of the Sec1\/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurological disorders. Herein, we present the case of a Japanese girl with a mutation in the STXBP1 gene, who was born at 40 weeks without neonatal asphyxia. At 15 days old, she developed epilepsy and generalized seizures. Around 88 days old, she presented with a series of nodding spasms, with the seizure frequency gradually increasing. Interictal EEG indicated hypsarrhythmia and she presented with developmental regression. At 1.5 years old, genetic testing was performed and mutational analysis revealed an STXBP1 gene mutation (c.875G &gt; A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome\u2019s clinical characteristics caused by the STXBP1 gene mutation. Although drug treatment has reduced the frequency of epileptic seizures, her development has remained regressive. The relationship between the location and type of genetic abnormality and the phenotype remains unclear. Future studies should investigate the genotype\u2013phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors.<\/jats:p>","DOI":"10.3390\/pediatric14040046","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T22:36:44Z","timestamp":1663713404000},"page":"386-395","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3396-1353","authenticated-orcid":false,"given":"Kanako","family":"Takeda","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Kawasaki Municipal Tama Hospital, 1-30-37 Shukugawara, Tama-ku, Kawasaki City 214-8525, Kanagawa, Japan"},{"name":"Department of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki City 216-8511, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusaku","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kawasaki Municipal Tama Hospital, 1-30-37 Shukugawara, Tama-ku, Kawasaki City 214-8525, Kanagawa, Japan"},{"name":"Department of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki City 216-8511, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisako","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kawasaki Municipal Tama Hospital, 1-30-37 Shukugawara, Tama-ku, Kawasaki City 214-8525, Kanagawa, Japan"},{"name":"Department of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki City 216-8511, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kawasaki Municipal Tama Hospital, 1-30-37 Shukugawara, Tama-ku, Kawasaki City 214-8525, Kanagawa, Japan"},{"name":"Department of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki City 216-8511, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8884-6120","authenticated-orcid":false,"given":"Noriko","family":"Sumitomo","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-machi, Kodaira City 187-8511, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eri","family":"Takeshita","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-machi, Kodaira City 187-8511, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fukuoka Sanno Hospital, 3-6-45 Momochihama Sawara-ku, Fukuoka-City 814-0001, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Hirose","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fukuoka University School of Medicine Comprehensive Medical Research Center, 45-1 7-Chome Nanakuma Jonan-Ku, Fukuoka-City 814-0180, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki City 216-8511, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/epi.16815","article-title":"The ILAE Classification of Seizures and the Epilepsies: Modification for Seizures in the Neonate. 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