The phenotype of SCN8A developmental and epileptic encephalopathy.

doi:10.1212/WNL.0000000000006199

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Article

The phenotype of SCN8A developmental and epileptic encephalopathy.

Neurology - 18 Sept 2018

Gardella Elena, Marini Carla, Trivisano Marina, Fitzgerald Mark P, Alber Michael, Howell Katherine B, Darra Francesca, Siliquini Sabrina, Bölsterli Bigna K, Masnada Silva, Pichiecchio Anna, Johannesen Katrine M, Jepsen Birgit, Fontana Elena, Anibaldi Gaia, Russo Silvia, Cogliati Francesca, Montomoli Martino, Specchio Nicola, Rubboli Guido, Veggiotti Pierangelo, Beniczky Sandor, Wolff Markus, Helbig Ingo, Vigevano Federico, Scheffer Ingrid E, Guerrini Renzo, Møller Rikke S

Abstract excerpt

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,...

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PMID: 30171078
DOI: 10.1212/WNL.0000000000006199

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