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https://hdl.handle.net/2440/70198
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dc.contributor.author | Weckhuysen, S. | - |
dc.contributor.author | Mandelstam, S. | - |
dc.contributor.author | Suls, A. | - |
dc.contributor.author | Audenaert, D. | - |
dc.contributor.author | Deconinck, T. | - |
dc.contributor.author | Claes, L. | - |
dc.contributor.author | Deprez, L. | - |
dc.contributor.author | Smets, K. | - |
dc.contributor.author | Hristova, D. | - |
dc.contributor.author | Yordanova, I. | - |
dc.contributor.author | Jordanova, A. | - |
dc.contributor.author | Ceulemans, B. | - |
dc.contributor.author | Jansen, A. | - |
dc.contributor.author | Hasaerts, D. | - |
dc.contributor.author | Roelens, F. | - |
dc.contributor.author | Lagae, L. | - |
dc.contributor.author | Yendle, S. | - |
dc.contributor.author | Stanley, T. | - |
dc.contributor.author | Heron, S. | - |
dc.contributor.author | Mulley, J. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | Annals of Neurology, 2012; 71(1):15-25 | - |
dc.identifier.issn | 0364-5134 | - |
dc.identifier.issn | 1531-8249 | - |
dc.identifier.uri | http://hdl.handle.net/2440/70198 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Sarah Weckhuysen... Sarah E. Heron, John C. Mulley... et al. | - |
dc.language.iso | en | - |
dc.publisher | Wiley-Liss | - |
dc.rights | Copyright © 2011 American Neurological Association | - |
dc.source.uri | http://dx.doi.org/10.1002/ana.22644 | - |
dc.subject | Humans | - |
dc.subject | Epilepsy, Benign Neonatal | - |
dc.subject | Phenotype | - |
dc.subject | Mutation | - |
dc.subject | Child | - |
dc.subject | Child, Preschool | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | KCNQ2 Potassium Channel | - |
dc.title | KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/ana.22644 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Heron, S. [0000-0001-8759-6748] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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