A single‐center SCN8A‐ related epilepsy cohort: clinical, genetic, and physiologic characterization
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Title
A single‐center
SCN8A‐
related epilepsy cohort: clinical, genetic, and physiologic characterization
Authors
Keywords
-
Journal
Annals of Clinical and Translational Neurology
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-07-23
DOI
10.1002/acn3.50839
References
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Note: Only part of the references are listed.- Mutations in SCN3A cause early infantile epileptic encephalopathy
- (2018) Tariq Zaman et al. ANNALS OF NEUROLOGY
- The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy
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- Early mortality in SCN8A -related epilepsies
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- The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer
- (2018) Rojeen Niazi et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- The phenotype of SCN8A developmental and epileptic encephalopathy
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- Prominent role of forebrain excitatory neurons in SCN8A encephalopathy
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- Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability
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- Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy
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- Neuronal hyperexcitability in a mouse model ofSCN8Aepileptic encephalopathy
- (2017) Luis F. Lopez-Santiago et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
- (2016) Elena Gardella et al. ANNALS OF NEUROLOGY
- Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol
- (2016) Reesha R. Patel et al. BRAIN
- Sodium Channel β Subunits: Emerging Targets in Channelopathies
- (2015) Heather A. O'Malley et al. Annual Review of Physiology
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- The phenotypic spectrum of SCN8A encephalopathy
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- Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers
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- Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
- (2015) Ragna S. Boerma et al. Neurotherapeutics
- Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
- (2015) Jacy L. Wagnon et al. Frontiers in Neurology
- Antiepileptic activity of preferential inhibitors of persistent sodium current
- (2014) Lyndsey L. Anderson et al. EPILEPSIA
- Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
- (2014) Jacy L. Wagnon et al. HUMAN MOLECULAR GENETICS
- Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome
- (2013) John C. Mulley et al. EPILEPSIA
- 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
- Voltage-gated sodium channels at 60: structure, function and pathophysiology
- (2012) William A. Catterall JOURNAL OF PHYSIOLOGY-LONDON
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