Journal article

SCN2A encephalopathy A major cause of epilepsy of infancy with migrating focal seizures

Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, Dimira Tambunan, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L Freeman, Sophie Calvert, Heather E Olson, Simone Mandelstam, Annapurna Poduri, Heather C Mefford, A Simon Harvey, Ingrid E Scheffer



OBJECTIVE: De novo SCN2A mutations have recently been associated with severe infantile-onset epilepsies. Herein, we define the phenotypic spectrum of SCN2A encephalopathy. METHODS: Twelve patients with an SCN2A epileptic encephalopathy underwent electroclinical phenotyping. RESULTS: Patients were aged 0.7 to 22 years; 3 were deceased. Seizures commenced on day 1-4 in 8, week 2-6 in 2, and after 1 year in 2. Characteristic features included clusters of brief focal seizures with multiple hourly (9 patients), multiple daily (2), or multiple weekly (1) seizures, peaking at maximal frequency within 3 months of onset. Multifocal interictal epileptiform discharges were seen in all. Three of 12 pati..

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Funding Acknowledgements

K.B.H. is supported by the Gustav Nossal National Health and Medical Research Council of Australia (NHMRC) Postgraduate Scholarship and the Clifford PhD Scholarship. A.P. is supported by the National Institute of Neurological Disorders and Stroke (NINDS). H.C.M. is a recipient of the Burroughs Wellcome Fund Career Award for Medical Scientists and is supported by funding from the NIH/NINDS. I.E.S. is supported by an NHMRC Program Grant and an NHMRC Practitioner Fellowship.