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Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

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 neurolo...

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Autores principales: Takeda, Kanako, Miyamoto, Yusaku, Yamamoto, Hisako, Iwasaki, Toshiyuki, Sumitomo, Noriko, Takeshita, Eri, Ishii, Atsushi, Hirose, Shinichi, Shimizu, Naoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/
https://www.ncbi.nlm.nih.gov/pubmed/36278550
http://dx.doi.org/10.3390/pediatric14040046
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author Takeda, Kanako
Miyamoto, Yusaku
Yamamoto, Hisako
Iwasaki, Toshiyuki
Sumitomo, Noriko
Takeshita, Eri
Ishii, Atsushi
Hirose, Shinichi
Shimizu, Naoki
author_facet Takeda, Kanako
Miyamoto, Yusaku
Yamamoto, Hisako
Iwasaki, Toshiyuki
Sumitomo, Noriko
Takeshita, Eri
Ishii, Atsushi
Hirose, Shinichi
Shimizu, Naoki
author_sort Takeda, Kanako
collection PubMed
description 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 > A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome’s 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–phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors.
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spelling pubmed-95899992022-10-25 Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review Takeda, Kanako Miyamoto, Yusaku Yamamoto, Hisako Iwasaki, Toshiyuki Sumitomo, Noriko Takeshita, Eri Ishii, Atsushi Hirose, Shinichi Shimizu, Naoki Pediatr Rep Case Report 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 > A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome’s 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–phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors. MDPI 2022-09-20 /pmc/articles/PMC9589999/ /pubmed/36278550 http://dx.doi.org/10.3390/pediatric14040046 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Takeda, Kanako
Miyamoto, Yusaku
Yamamoto, Hisako
Iwasaki, Toshiyuki
Sumitomo, Noriko
Takeshita, Eri
Ishii, Atsushi
Hirose, Shinichi
Shimizu, Naoki
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title_full Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title_fullStr Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title_full_unstemmed Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title_short Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
title_sort mutation in the stxbp1 gene associated with early onset west syndrome: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/
https://www.ncbi.nlm.nih.gov/pubmed/36278550
http://dx.doi.org/10.3390/pediatric14040046
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