Journal article
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, RS Møller, S Grønborg, AS Schoonjans, B Ceulemans, SB Heavin, C Eltze, R Horvath, G Casara, T Pisano, L Giordano, K Rostasy, E Haberlandt, B Albrecht, A Bevot, I Benkel Show all
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2013
Abstract
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy. Methods: Eighty-four patients with unexplained NEE were screened for KCNQ2 mutations using classic Sanger sequencing. Clinical data of 6 additional patients with KCNQ2 mutations detected by gene panel were collected. Detailed phenotyping was performed with particular attention to seizure frequency, cognitive outcome, and video-EEG. Results: In the cohort, we identified 9 different heterozygous de novo KCNQ2 missense mutations in 11 of 84 patients (13%). Two of 6 missense mutations detected by gene panel we..
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Awarded by Medical Research Council
Funding Acknowledgements
Supported by the Fund for Scientific Research Flanders (FWO) (P.D.J.), Methusalem excellence grant of the Flemish Government (P.D.J.), University of Antwerp, the Eurocores program EuroEPINOMICS of the European Science Foundation (P.D.J.), and National Health and Medical Research Council of Australia (I.S.).