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Article

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

Brain & development - 1 Sept 2018

Takeguchi Ryo, Haginoya Kazuhiro, Uchiyama Yuri, Fujita Atsushi, Nagura Michiaki, Takeshita Eri, Inui Takehiko, Okubo Yukimune, Sato Ryo, Miyabayashi Takuya, Togashi Noriko, Saito Takashi, Nakagawa Eiji, Sugai Kenji, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi, Sasaki Masayuki

Abstract excerpt

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)....

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Source

Identifiers

PMID: 29699863
DOI: 10.1016/j.braindev.2018.04.002

Genes

FGF12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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