KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
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 #
American Neurological Association
Annals of Neurology vol:71 issue:1 pages:15-25
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 exists.