دورية أكاديمية
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
| العنوان: | KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy |
|---|---|
| المؤلفون: | 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. |
| المصدر: | http://dx.doi.org/10.1002/ana.22644Test. |
| بيانات النشر: | Wiley-Liss |
| سنة النشر: | 2012 |
| المجموعة: | The University of Adelaide: Digital Library |
| مصطلحات موضوعية: | Humans, Epilepsy, Benign Neonatal, Phenotype, Mutation, Child, Preschool, Female, Male, KCNQ2 Potassium Channel |
| الوصف: | 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. ; Sarah Weckhuysen. Sarah E. Heron, John C. Mulley. et al. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0364-5134 1531-8249 |
| العلاقة: | Annals of Neurology, 2012; 71(1):15-25; http://hdl.handle.net/2440/70198Test; Heron, S. [0000-0001-8759-6748] |
| DOI: | 10.1002/ana.22644 |
| الإتاحة: | https://doi.org/10.1002/ana.22644Test http://hdl.handle.net/2440/70198Test |
| حقوق: | Copyright © 2011 American Neurological Association |
| رقم الانضمام: | edsbas.CA0357EF |
| قاعدة البيانات: | BASE |
| تدمد: | 03645134 15318249 |
|---|---|
| DOI: | 10.1002/ana.22644 |