Article
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Annals of neurology - 1 Jan 2012
Weckhuysen Sarah, Mandelstam Simone, Suls Arvid, Audenaert Dominique, Deconinck Tine, Claes Lieve R F, Deprez Liesbet, Smets Katrien, Hristova Dimitrina, Yordanova Iglika, Jordanova Albena, Ceulemans Berten, Jansen An, Hasaerts Danièle, Roelens Filip, Lagae Lieven, Yendle Simone, Stanley Thorsten, Heron Sarah E, Mulley John C, Berkovic Samuel F, Scheffer Ingrid E, de Jonghe Peter
Abstract excerpt
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 KCNQ2/3 mutations are a frequent cause of epileptic encephalopathies with an early onset and whether a recognizable phenotype...
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