Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy-Reference-Cited by-同舟云学术

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Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

Published:2016-03 Issue:3 Volume:38 Page:280-284
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Yamamoto Toshiyuki,Shimojima Keiko,Yano Tamami,Ueda Yuki,Takayama Rumiko,Ikeda Hiroko,Imai Katsumi

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Epileptic encephalopathies: an overview;Khan;Epilepsy Res Treat,2012

2. Epileptic encephalopathies in early infancy with suppression-burst;Ohtahara;J Clin Neurophysiol,2003

3. Epilepsies and epileptic syndromes starting in the neonatal period;Yamamoto;Brain Dev,2011

4. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies;Tavyev Asher;Eur J Med Genet,2012

5. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy;Saitsu;Nat Genet,2008

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders;Current Problems in Pediatric and Adolescent Health Care;2024-08

2. Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report;Molecular Syndromology;2024-04-02

3. Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing;Genes;2022-12-27

4. Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy;Frontiers in Pediatrics;2022-11-11

5. Clemizole and trazodone are effective antiseizure treatments in a zebrafish model of STXBP1 disorder;Epilepsia Open;2022-05-17

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