Journal article
The phenotype of SCN8A developmental and epileptic encephalopathy
E Gardella, C Marini, M Trivisano, MP Fitzgerald, M Alber, KB Howell, F Darra, S Siliquini, BK Bölsterli, S Masnada, A Pichiecchio, KM Johannesen, B Jepsen, E Fontana, G Anibaldi, S Russo, F Cogliati, M Montomoli, N Specchio, G Rubboli Show all
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2018
Abstract
Objective To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Methods Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Results Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration,..
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Awarded by European Commission
Funding Acknowledgements
This work was supported by the Gustav Nossal National Health and Medical Research Council Postgraduate Scholarship and the Clifford PhD Scholarship (to K.B.H.), the Starr International Foundation (to B.K.B.), by MOH Grants to Istituto Auxologico Italiano (08C208_2012 and 08C305_2013) (to S.R. and F.C.), by a National Health and Medical Research Council of Australia Practitioner Fellowship and Program Grant (to I.E.S.), and by the EU Seventh Framework Programme (FP7) under the project DESIRE grant agreement N602531 (to R.G.).