Matches in UGent Biblio for { <https://biblio.ugent.be/publication/3154761#aggregation> ?p ?o. }
Showing items 1 to 54 of
54
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B794336.
- aggregation creator B794337.
- aggregation creator B794338.
- aggregation creator B794339.
- aggregation creator B794340.
- aggregation creator B794341.
- aggregation creator B794342.
- aggregation creator B794343.
- aggregation creator B794344.
- aggregation creator B794345.
- aggregation creator B794346.
- aggregation creator B794347.
- aggregation creator B794348.
- aggregation creator B794349.
- aggregation creator B794350.
- aggregation creator B794351.
- aggregation creator B794352.
- aggregation creator B794353.
- aggregation creator B794354.
- aggregation creator B794355.
- aggregation creator B794356.
- aggregation creator B794357.
- aggregation creator person.
- aggregation date "2012".
- aggregation format "application/pdf".
- aggregation hasFormat 3154761.bibtex.
- aggregation hasFormat 3154761.csv.
- aggregation hasFormat 3154761.dc.
- aggregation hasFormat 3154761.didl.
- aggregation hasFormat 3154761.doc.
- aggregation hasFormat 3154761.json.
- aggregation hasFormat 3154761.mets.
- aggregation hasFormat 3154761.mods.
- aggregation hasFormat 3154761.rdf.
- aggregation hasFormat 3154761.ris.
- aggregation hasFormat 3154761.txt.
- aggregation hasFormat 3154761.xls.
- aggregation hasFormat 3154761.yaml.
- aggregation isPartOf urn:issn:0364-5134.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy".
- aggregation 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.".
- aggregation authorList BK1165706.
- aggregation endPage "25".
- aggregation issue "1".
- aggregation startPage "15".
- aggregation volume "71".
- aggregation aggregates 3155407.
- aggregation isDescribedBy 3154761.
- aggregation similarTo ana.22644.
- aggregation similarTo LU-3154761.