Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome
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Title
Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome
Authors
Keywords
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Journal
EPILEPSIA
Volume 58, Issue 2, Pages 282-290
Publisher
Wiley
Online
2016-12-25
DOI
10.1111/epi.13639
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Related references
Note: Only part of the references are listed.- Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes
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- TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype
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- Incidence of Dravet Syndrome in a US Population
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- Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
- (2012) A. Brunklaus et al. BRAIN
- CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
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- MosaicSCN1Amutations in familial partial epilepsy with antecedent febrile seizures
- (2011) Y.-W. Shi et al. GENES BRAIN AND BEHAVIOR
- Genotype-phenotype associations in SCN1A-related epilepsies
- (2011) S. M. Zuberi et al. NEUROLOGY
- Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
- (2010) Renzo Guerrini et al. EPILEPSIA
- Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
- (2010) Miriam H. Meisler et al. JOURNAL OF PHYSIOLOGY-LONDON
- Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
- (2010) Anne M McIntosh et al. LANCET NEUROLOGY
- Stiripentol open study in Japanese patients with Dravet syndrome
- (2009) Yushi Inoue et al. EPILEPSIA
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
- Introducing sense into nonsense in treatments of human genetic diseases
- (2008) Liat Linde et al. TRENDS IN GENETICS
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