Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.

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. This study makes use of data generated by the DECIPHER community. A full list of centers that contributed to the generation of the data is available at [decipher.sanger.ac.uk][1] and can be shared via email upon request (decipher{at}sanger.ac.uk). Funding for the project was provided by the Wellcome Trust. The authors thank Prof. Dr. Phillip Pearl, Boston, Harvard Medical School, for discussion on current EEG terminology commonly used in the United States. [1]: http://decipher.sanger.ac.uk