De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

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