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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,… Click to show full 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 B-isoform) causes epileptic encephalopathy (EE) with neonatal onset and intellectual disability (ID).2–6 Recently, a tandem duplication involving exons 1–4 of the FGF12 gene was related to a later onset EE phenotype.7 Here, we characterize a second case harboring a FGF12 exon 1–4 duplication.
Journal Title: Neurology: Genetics
Year Published: 2020
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