Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation-Reference-Cited by-同舟云学术

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Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

Published:2014-02 Issue:2 Volume:50 Page:177-180
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Tso Winnie W.Y.,Kwong Anna K.Y.,Fung Cheuk Wing,Wong Virginia C.N.

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy;Beal;Pediatr Neurol,2012

2. Genes of early-onset epileptic encephalopathies: from genotype to phenotype;Mastrangelo;Pediatr Neurol,2012

3. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations;Milh;Epilepsia,2011

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

5. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations;Deprez;Neurology,2010

Cited by 19 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. Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China;BMC Medical Genomics;2023-03-07

2. Childhood Epilepsy Syndromes;Handbook of Pediatric Epilepsy;2022

3. Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy;Frontiers in Neurology;2021-06-07

4. In vivo calcium imaging reveals disordered interictal network dynamics in epileptic stxbp1b zebrafish;iScience;2021-06

5. Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome;Brain Communications;2021

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