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Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE. Carranza Rojo D, et al. Among authors: freeman jl. Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386634
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