Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/70198
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Type: Journal article
Title: KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Author: Weckhuysen, S.
Mandelstam, S.
Suls, A.
Audenaert, D.
Deconinck, T.
Claes, L.
Deprez, L.
Smets, K.
Hristova, D.
Yordanova, I.
Jordanova, A.
Ceulemans, B.
Jansen, A.
Hasaerts, D.
Roelens, F.
Lagae, L.
Yendle, S.
Stanley, T.
Heron, S.
Mulley, J.
et al.
Citation: Annals of Neurology, 2012; 71(1):15-25
Publisher: Wiley-Liss
Issue Date: 2012
ISSN: 0364-5134
1531-8249
Statement of
Responsibility: 
Sarah Weckhuysen... Sarah E. Heron, John C. Mulley... et al.
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 KCNQ2/3 mutations are a frequent cause of epileptic encephalopathies with an early onset and whether a recognizable phenotype exists. METHODS: We analyzed 80 patients with unexplained neonatal or early-infantile seizures and associated psychomotor retardation for KCNQ2 and KCNQ3 mutations. Clinical and imaging data were reviewed in detail. RESULTS: We found 7 different heterozygous KCNQ2 mutations in 8 patients (8/80; 10%); 6 mutations arose de novo. One parent with a milder phenotype was mosaic for the mutation. No KCNQ3 mutations were found. The 8 patients had onset of intractable seizures in the first week of life with a prominent tonic component. Seizures generally resolved by age 3 years but the children had profound, or less frequently severe, intellectual disability with motor impairment. Electroencephalography (EEG) at onset showed a burst-suppression pattern or multifocal epileptiform activity. Early magnetic resonance imaging (MRI) of the brain showed characteristic hyperintensities in the basal ganglia and thalamus that later resolved. INTERPRETATION: KCNQ2 mutations are found in a substantial proportion of patients with a neonatal epileptic encephalopathy with a potentially recognizable electroclinical and radiological phenotype. This suggests that KCNQ2 screening should be included in the diagnostic workup of refractory neonatal seizures of unknown origin.
Keywords: Humans; Epilepsy, Benign Neonatal; Phenotype; Mutation; Child; Child, Preschool; Female; Male; KCNQ2 Potassium Channel
Rights: Copyright © 2011 American Neurological Association
RMID: 0020116090
DOI: 10.1002/ana.22644
Appears in Collections:Paediatrics publications

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