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

Justyna PaprockaAleksandra Jezela-StanekAgniesz KoppoluMałgorzata RydzaniczJoanna KosińskaPiotr StawińskiPloski Rafal

Published in: Clinical genetics (2019)

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.

Keyphrases

genome wide
copy number
cancer therapy
gene expression