Title: KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
Authors: 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 #
Issue Date: Jan-2012
Publisher: American Neurological Association
Series Title: Annals of Neurology vol:71 issue:1 pages:15-25
Article number: 10.1002/ana.22644
Abstract: 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.
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Neuro-musculo-skeletal Research (-)
× corresponding author
# (joint) last author

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