标题
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
作者
关键词
-
出版物
NATURE GENETICS
Volume 47, Issue 4, Pages 393-399
出版商
Springer Nature
发表日期
2015-03-09
DOI
10.1038/ng.3239
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。- Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy
- (2015) S.D.J. Pena et al. CLINICAL GENETICS
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy
- (2014) Caroline Nava et al. NATURE GENETICS
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
- (2013) Arvid Suls et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy
- (2013) Gökce Orhan et al. ANNALS OF NEUROLOGY
- The history of the concept of epileptic encephalopathy
- (2013) Giuseppe Capovilla et al. EPILEPSIA
- dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
- (2013) Xiaoming Liu et al. HUMAN MUTATION
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- Ion channels in genetic and acquired forms of epilepsy
- (2012) Holger Lerche et al. JOURNAL OF PHYSIOLOGY-LONDON
- Voltage-gated potassium channels and the diversity of electrical signalling
- (2012) Lily Yeh Jan et al. JOURNAL OF PHYSIOLOGY-LONDON
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan’s syndrome and acquired neuromyotonia
- (2010) Sarosh R. Irani et al. BRAIN
- A New Kv1.2 Channelopathy Underlying Cerebellar Ataxia
- (2010) Gang Xie et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Structure of the full-length Shaker potassium channel Kv1.2 by normal-mode-based X-ray crystallographic refinement
- (2010) X. Chen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cell-Type-Dependent Molecular Composition of the Axon Initial Segment
- (2009) A. Lorincz et al. JOURNAL OF NEUROSCIENCE
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