Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
出版年份 2019 全文链接
标题
Characteristics of
KCNQ
2
variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
作者
关键词
-
出版物
EPILEPSIA
Volume 60, Issue 9, Pages 1870-1880
出版商
Wiley
发表日期
2019-08-16
DOI
10.1111/epi.16314
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review
- (2019) M. Kuersten et al. European Journal of Medical Genetics
- Modulation of Kv7 channels and excitability in the brain
- (2016) Derek L. Greene et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome
- (2016) Atsushi Ishii et al. EPILEPSIA
- A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
- (2016) Atsushi Ishii et al. JOURNAL OF MEDICAL GENETICS
- Development and validation of an epitope prediction tool for swine (PigMatrix) based on the pocket profile method
- (2015) Andres H. Gutiérrez et al. BMC BIOINFORMATICS
- 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
- EpilepsyGene: a genetic resource for genes and mutations related to epilepsy
- (2014) Xia Ran et al. NUCLEIC ACIDS RESEARCH
- PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating
- (2014) Mark A. Zaydman et al. Frontiers in Physiology
- Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy
- (2013) Gökce Orhan et al. ANNALS OF NEUROLOGY
- Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation
- (2013) Mitsuhiro Kato 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
- Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
- (2013) Francesco Miceli et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
- (2009) H. Kurahashi et al. NEUROLOGY
- Selective Interaction of Syntaxin 1A with KCNQ2: Possible Implications for Specific Modulation of Presynaptic Activity
- (2009) Noa Regev et al. PLoS One
- A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
- (2008) Atsushi Ishii et al. BRAIN & DEVELOPMENT
- Calmodulin regulates the trafficking of KCNQ2 potassium channels
- (2007) Ainhoa Etxeberria et al. FASEB JOURNAL
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