<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

2011504 citationsJournal Article

Authors

Sarah Weckhuysen · Kempenhaeghe

Simone Mandelstam · Royal Children's Hospital

Arvid Suls · VIB-UAntwerp Center for Molecular Neurology

Dominique Audenaert · University of Antwerp

Tine Deconinck · VIB-UAntwerp Center for Molecular Neurology

Lieve Claes · VIB-UAntwerp Center for Molecular Neurology

Liesbet Deprez

Abstract

KCNQ2 mutations are found in a substantial proportion of patients with a neonatal epileptic encephalopathy with a potentially recognizable electroclinical and radiological phenotype. This suggests that KCNQ2 screening should be included in the diagnostic workup of refractory neonatal seizures of unknown origin.

Topics & Keywords

Ion channel regulation and function Epilepsy research and treatment Cardiac electrophysiology and arrhythmias

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 71, Issue 1, pp. 15-25

DOI: 10.1002/ana.22644

Field-Weighted Citation Impact: 11.07