Journal article

The phenotype of SCN8A developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano, Mark P Fitzgerald, Michael Alber, Katherine B Howell, Francesca Darra, Sabrina Siliquini, Bigna K Bolsterli, Silva Masnada, Anna Pichiecchio, Katrine M Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli Show all



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 deteriorati..

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University of Melbourne Researchers


Awarded by MOH

Awarded by EU Seventh Framework Programme (FP7) under the project DESIRE grant

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.).