FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

Clin Genet. 2019 Sep;96(3):274-275. doi: 10.1111/cge.13592. Epub 2019 Jul 10.

Abstract

A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles*
  • Amino Acid Substitution*
  • Anticonvulsants / therapeutic use
  • Child, Preschool
  • Electroencephalography
  • Epilepsy / diagnosis*
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Exome Sequencing
  • Fibroblast Growth Factors / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Phenobarbital / therapeutic use
  • Phenytoin / therapeutic use

Substances

  • Anticonvulsants
  • FGF12 protein, human
  • Phenytoin
  • Fibroblast Growth Factors
  • Phenobarbital