Article
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Neurology - 15 Sept 2015
Howell Katherine B, McMahon Jacinta M, Carvill Gemma L, Tambunan Dimira, Mackay Mark T, Rodriguez-Casero Victoria, Webster Richard, Clark Damian, Freeman Jeremy L, Calvert Sophie, Olson Heather E, Mandelstam Simone, Poduri Annapurna, Mefford Heather C, Harvey A Simon, Scheffer Ingrid E
Abstract excerpt
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....
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