Early onset epileptic encephalopathy caused by de novoSCN8Amutations
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Title
Early onset epileptic encephalopathy caused by de novoSCN8Amutations
Authors
Keywords
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Journal
EPILEPSIA
Volume 55, Issue 7, Pages 994-1000
Publisher
Wiley
Online
2014-06-03
DOI
10.1111/epi.12668
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Note: Only part of the references are listed.- Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
- (2013) Hirofumi Kodera et al. EPILEPSIA
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- (2013) Hirotomo Saitsu et al. NATURE GENETICS
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- (2013) Gemma L Carvill et al. NATURE GENETICS
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
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- Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions
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- Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
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- De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
- (2012) Krishna R. Veeramah et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neurological perspectives on voltage-gated sodium channels
- (2012) N. Eijkelkamp et al. BRAIN
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- (2012) Megan Oliva et al. EPILEPSIA
- Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment
- (2012) Helene Vacher et al. EPILEPSIA
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A
- (2011) Janelle E. O'Brien et al. MOLECULAR AND CELLULAR NEUROSCIENCE
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- (2011) Orrin Devinsky NEW ENGLAND JOURNAL OF MEDICINE
- Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
- (2010) Yunxiang Liao et al. BRAIN
- Sodium channel SCN1A and epilepsy: Mutations and mechanisms
- (2010) Andrew Escayg et al. EPILEPSIA
- Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
- (2010) Miriam H. Meisler et al. JOURNAL OF PHYSIOLOGY-LONDON
- Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
- (2009) Ligia A. Papale et al. HUMAN MOLECULAR GENETICS
- A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
- (2009) Nanda A. Singh et al. PLoS Genetics
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