Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication
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DOI: 10.1212/nxg.0000000000000494
Abstract: Fibroblast growth factor 12 (FGF12) spans 5 exons and encodes for a cytosolic voltage-gated sodium channel binding protein that modulates neuronal excitability.1,2 A recurrent activating FGF12 mutation (NM_021032, [GRCh37] 192053223C>T, p.R114H in A-isoform, p.R52H in… read more here.
Keywords: onset epileptic; tandem duplication; epileptic encephalopathy; fgf12 exon ... See more keywords