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

Weckhuysen, Sarah; Mandelstam, Simone; Suls, Arvid; Audenaert, Dominique; Deconinck, Tine; R.F. Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Hristova, Dimitrina; Yordanova, Iglika; Jordanova, Albena; Ceulemans, Berten; Jansen, An; Hasaerts, Danièle; Roelens, Filip; Lagae, Lieven; Yendle, Simone; Stanley, Thorsten; E. Heron, Sarah; C. Mulley, John; F. Berkovic, Samuel; E. Scheffer, Ingrid; de Jonghe, Peter

doi:10.1002/ana.22644

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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Shared by NobleBlocks on Jan 1, 2012 • 12:00 AM UTC

Authors:

Sarah Weckhuysen

Simone Mandelstam

Arvid Suls

Abstract

Abstract Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite relationship has not been established. In this study we investigated whether KCNQ2/...

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