Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

(2016) Jérôme Devaux et al.   EPILEPSIA

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

(2015) Nadia Boutry-Kryza et al.   European Journal of Medical Genetics

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

(2015) F. Miceli et al.   JOURNAL OF NEUROSCIENCE

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

(2015) Affef Abidi et al.   NEUROBIOLOGY OF DISEASE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain

(2014) Orit Gourgy-Hacohen et al.   JOURNAL OF GENERAL PHYSIOLOGY

The Kick-In System: A Novel Rapid Knock-In Strategy

(2014) Yuko Tomonoh et al.   PLoS One

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

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

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Mechanism of Voltage Gating in Potassium Channels

(2012) M. O. Jensen et al.   SCIENCE

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Driving With No Brakes: Molecular Pathophysiology of Kv7 Potassium Channels

(2011) Maria Virginia Soldovieri et al.   PHYSIOLOGY

Gating Consequences of Charge Neutralization of Arginine Residues in the S4 Segment of Kv7.2, an Epilepsy-Linked K+ Channel Subunit

(2008) Francesco Miceli et al.   BIOPHYSICAL JOURNAL