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Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20.
Epilepsia. 2018.
PMID: 29460957
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
de Lange IM, Weuring W, van 't Slot R, Gunning B, Sonsma ACM, McCormack M, de Kovel C, van Gemert LJJM, Mulder F, van Kempen MJA, Knoers NVAM, Brilstra EH, Koeleman BPC.
de Lange IM, et al. Among authors: van gemert ljjm.
Mol Genet Genomic Med. 2019 Jul;7(7):e00727. doi: 10.1002/mgg3.727. Epub 2019 May 29.
Mol Genet Genomic Med. 2019.
PMID: 31144463
Free PMC article.
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