Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Verheyen, S; Speicher, MR; Ramler, B; Plecko, B.
Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
Neurol Genet. 2020; 6(5): e494-e494.
Doi: 10.1212/NXG.0000000000000494
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- Führende Autor*innen der Med Uni Graz
- Plecko Barbara
- Verheyen Sarah
- Co-Autor*innen der Med Uni Graz
- Speicher Michael
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- 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.