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

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Clin Genet. 2019 Jul 10;:
Authors: Paprocka J, Jezela-Stanek A, Koppolu A, Rydzanicz M, Kosińska J, Stawiński P, Płoski R
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.
PMID: 31292943 [PubMed - as supplied by publisher]

Source: Clinical Genetics - July 9, 2019 Category: Genetics & Stem Cells Authors: Paprocka J, Jezela-Stanek A, Koppolu A, Rydzanicz M, Kosińska J, Stawiński P, Płoski R Tags: Clin Genet Source Type: research