Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
出版年份 2020 全文链接
标题
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
作者
关键词
-
出版物
EPILEPSIA
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-02-24
DOI
10.1111/epi.16438
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
- (2019) Anaïs Begemann et al. MOLECULAR MEDICINE
- SCN1A gain of function in early infantile encephalopathy
- (2019) Géza Berecki et al. ANNALS OF NEUROLOGY
- Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy
- (2019) Veronica C. Beck et al. Epilepsy Currents
- Biallelic inherited SCN8A variants, a rare cause of SCN8A ‐related developmental and epileptic encephalopathy
- (2019) Eric R. Wengert et al. EPILEPSIA
- Mutations in SCN3A cause early infantile epileptic encephalopathy
- (2018) Tariq Zaman et al. ANNALS OF NEUROLOGY
- Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences
- (2018) Massimo Mantegazza et al. NEUROSCIENCE LETTERS
- Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms ofSCN2Aepilepsy
- (2018) Géza Berecki et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Progress in Understanding and Treating SCN2A -Mediated Disorders
- (2018) Stephan J. Sanders et al. TRENDS IN NEUROSCIENCES
- Location: A surrogate for personalized treatment of sodium channelopathies
- (2018) Katherine D. Holland et al. ANNALS OF NEUROLOGY
- Relationship of electrophysiological dysfunction and clinical severity in SCN2A -related epilepsies
- (2018) Stephan Lauxmann et al. HUMAN MUTATION
- The phenotype of SCN8A developmental and epileptic encephalopathy
- (2018) Elena Gardella et al. NEUROLOGY
- Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability
- (2018) Yuanyuan Liu et al. BRAIN
- SCN3A deficiency associated with increased seizure susceptibility
- (2017) Tyra Lamar et al. NEUROBIOLOGY OF DISEASE
- Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
- (2017) Valentina Cetica et al. NEUROLOGY
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
- (2017) Lynette G. Sadleir et al. NEUROLOGY
- Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
- (2016) Elena Gardella et al. ANNALS OF NEUROLOGY
- Whole gene duplication ofSCN2AandSCN3Ais associated with neonatal seizures and a normal intellectual development
- (2016) A-C. Thuresson et al. CLINICAL GENETICS
- SCN8Aencephalopathy: Research progress and prospects
- (2016) Miriam H. Meisler et al. EPILEPSIA
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers
- (2015) Rikke S. Møller et al. Neurotherapeutics
- Genotype phenotype associations across the voltage-gated sodium channel family
- (2014) Andreas Brunklaus et al. JOURNAL OF MEDICAL GENETICS
- Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism
- (2013) Yu Liu et al. ANNALS OF NEUROLOGY
- Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome
- (2013) Christine S Cheah et al. Channels
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
- (2013) K. Nakamura et al. NEUROLOGY
- Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects
- (2013) S. Cestele et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
- (2012) A. Brunklaus et al. BRAIN
- Voltage-gated sodium channels at 60: structure, function and pathophysiology
- (2012) William A. Catterall JOURNAL OF PHYSIOLOGY-LONDON
- Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
- (2011) Linda Volkers et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- Genotype-phenotype associations in SCN1A-related epilepsies
- (2011) S. M. Zuberi et al. NEUROLOGY
- 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
- SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
- (2010) Y. Liao et al. NEUROLOGY
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
- (2009) Carla Marini et al. EPILEPSIA
- TheSCN1Avariant database: a novel research and diagnostic tool
- (2009) Lieve RF Claes et al. HUMAN MUTATION
- De novo mutations of voltage-gated sodium channel II gene SCN2A in intractable epilepsies
- (2009) I. Ogiwara et al. NEUROLOGY
- Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy
- (2008) Ji-wen Wang et al. EPILEPSIA
- Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases
- (2008) Josef Davidsson et al. EPILEPSY RESEARCH
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
- Divergent sodium channel defects in familial hemiplegic migraine
- (2008) K. M. Kahlig et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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