Journal article
Early and effective treatment of KCNQ2 encephalopathy
T Pisano, AL Numis, SB Heavin, S Weckhuysen, M Angriman, A Suls, B Podesta, RL Thibert, KA Shapiro, R Guerrini, IE Scheffer, C Marini, MR Cilio
Epilepsia | Published : 2015
DOI: 10.1111/epi.12984
Abstract
Objectives To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life. Methods We identified 15 patients and reviewed the electroclinical, neuroimaging, and AED treatment data. Results Seizure onset was between 1 and 4 days of age with daily tonic asymmetric, focal and clonic seizures in nine patients and status epilepticus in the remaining six. Electroencephalography (EEG) showed multifocal epileptiform abnormalities in nine patients and a burst-suppression pattern in six. All patients were trialed with adequate daily doses of several AEDs before they reached seizure..
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Awarded by Italian Ministry of Health and Education
Funding Acknowledgements
We thank the patients and their families for participating in our research. We thank Piras Maria Francesca for technical support. The study was supported by the RF-2009-152669 grant from the Italian Ministry of Health and Education and the National Health and Medical Research Council of Australia. AS is a postdoctoral fellow of the National Fund for Scientific Research Flanders (FWO). Prof Guerrini received honoraria from Biocodex, UCB, Eisai Inc., Value-Box, and ViroPharma, and research support from the Italian Ministry of Health, the European Community Sixth and Seventh Framework Thematic Priority Health, the Italian Ministry of Education, University and Research, the Tuscany Region, the Telethon Foundation, and the Mariani Foundation. Prof Scheffer has received support from, and/or has served as a paid consultant for UCB, Athena Diagnostics, GlaxoSmithKline, Janssen-Cilag EMEA, and Transgenomics and Biocodex.