Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Published 2015 View Full Article
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Title
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Authors
Keywords
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Journal
CLINICAL GENETICS
Volume 89, Issue 2, Pages 198-204
Publisher
Wiley
Online
2015-07-04
DOI
10.1111/cge.12636
References
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Related references
Note: Only part of the references are listed.- Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
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- (2014) Alessandra Baumer et al. NEUROPEDIATRICS
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- (2013) Nesrine Bissar-Tadmouri et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy
- (2013) Gökce Orhan et al. ANNALS OF NEUROLOGY
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- (2013) Piero Pavone et al. BRAIN & DEVELOPMENT
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- (2013) Stephan Lauxmann et al. EPILEPSIA
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- (2013) Marlin Touma et al. EPILEPSIA
- NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A
- (2013) Maria Virginia Soldovieri et al. HUMAN MUTATION
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
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- (2012) Anita Rauch et al. LANCET
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- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
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- (2009) Hartmut Engels et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Interaction between the C Termini of Alg13 and Alg14 Mediates Formation of the Active UDP-N-acetylglucosamine Transferase Complex
- (2008) Xiao-Dong Gao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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