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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. Howell KB, et al. Among authors: freeman jl. Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19. Neurology. 2015. PMID: 26291284 Free PMC article.
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.
Wallace RH, Freeman JL, Shouri MR, Izzillo PA, Rosenfeld JV, Mulley JC, Harvey AS, Berkovic SF. Wallace RH, et al. Among authors: freeman jl. Neurology. 2008 Feb 19;70(8):653-5. doi: 10.1212/01.wnl.0000284607.12906.c5. Epub 2007 Dec 5. Neurology. 2008. PMID: 18057317 No abstract available.
489 results