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https://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: | <h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Interpretation</h4>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 |
DOI: | 10.1002/ana.22644 |
Published version: | http://dx.doi.org/10.1002/ana.22644 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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