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

Justyna Paprocka; Aleksandra Jezela-Stanek; Agniesz Koppolu; Małgorzata Rydzanicz; Joanna Kosińska; Piotr Stawiński; Rafał Płoski

doi:10.1111/cge.13592

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.

Authors

Justyna Paprocka¹, Aleksandra Jezela-Stanek², Agniesz Koppolu^{3

4}, Małgorzata Rydzanicz³, Joanna Kosińska³, Piotr Stawiński³, Rafał Płoski³

Affiliations

¹ Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
² Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
³ Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
⁴ Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.

PMID: 31292943
DOI: 10.1111/cge.13592

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