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Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Zaman T, et al. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30. Ann Neurol. 2018. PMID: 29466837 Free PMC article.
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Ann Neurol. 2018 Jul;84(1):159-161. doi: 10.1002/ana.25256. Epub 2018 Jul 30. Ann Neurol. 2018. PMID: 29740860 No abstract available.