Ontology highlight
ABSTRACT:
SUBMITTER: Weckhuysen S
PROVIDER: S-EPMC3812107 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Weckhuysen Sarah S Ivanovic Vanja V Hendrickx Rik R Van Coster Rudy R Hjalgrim Helle H Møller Rikke S RS Grønborg Sabine S Schoonjans An-Sofie AS Ceulemans Berten B Heavin Sinead B SB Eltze Christin C Horvath Rita R Casara Gianluca G Pisano Tiziana T Giordano Lucio L Rostasy Kevin K Haberlandt Edda E Albrecht Beate B Bevot Andrea A Benkel Ira I Syrbe Steffan S Sheidley Beth B Guerrini Renzo R Poduri Annapurna A Lemke Johannes R JR Mandelstam Simone S Scheffer Ingrid I Angriman Marco M Striano Pasquale P Marini Carla C Suls Arvid A De Jonghe Peter P
Neurology 20131009 19
<h4>Objectives</h4>To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy.<h4>Methods</h4>Eighty-four patients with unexplained NEE were screened for KCNQ2 mutations using classic Sanger sequencing. Clinical data of 6 additional patients with KCNQ2 mutations detected by gene panel were collected. Detailed phenotyping was performed with particular attention to seizure frequency ...[more]