Format

Send to

Choose Destination
Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.

Author information

1
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
2
Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.
3
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
4
Department of Pediatrics, Saitama Medical Center, Saitama, Japan.
5
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address: erit@ncnp.go.jp.
6
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Abstract

A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. This mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy. One of our cases exhibited EIMFS, and this case responded to phenytoin and high-dose phenobarbital (PB). FGF12-related epileptic encephalopathy may exhibit diverse phenotypes and may respond to sodium channel blockers or high-dose PB.

KEYWORDS:

Early onset epileptic encephalopathy (EIEE); Epilepsy of infancy with migrating focal seizures (EIMFS); FGF12; High-dose phenobarbital; Parental mosaicism

PMID:
29699863
DOI:
10.1016/j.braindev.2018.04.002
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center