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

被引：10

作者：

Paprocka, Justyna ^{[1
]}

Jezela-Stanek, Aleksandra ^{[2
]}

Koppolu, Agniesz ^{[3
,4
]}

Rydzanicz, Malgorzata ^{[3
]}

Kosinska, Joanna ^{[3
]}

Stawinski, Piotr ^{[3
]}

Ploski, Rafal ^{[3
]}

机构：

[1] Med Univ Silesia, Sch Med Katowice, Dept Paediat Neurol, Katowice, Poland

[2] Natl Inst TB & Lung Dis, Dept Genet & Clin Immunol, Warsaw, Poland

[3] Warsaw Med Univ, Dept Med Genet, Poland Ul Pawinskiego 3c, PL-02106 Warsaw, Poland

[4] Warsaw Med Univ, Postgrad Sch Mol Med, Warsaw, Poland

来源：

CLINICAL GENETICS | 2019年 / 96卷 / 03期

关键词：

D O I：

10.1111/cge.13592

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：274 / 275

页数：2

共 4 条

[1] De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy [J].

Guella, Ilaria ;

Huh, Linda ;

McKenzie, Mama B. ;

Toyota, Eric B. ;

Bebin, E. Martina ;

Thompson, Michelle L. ;

Cooper, Gregory M. ;

Evans, Daniel M. ;

Buerki, Sarah E. ;

Adam, Shelin ;

Van Allen, Margot I. ;

Nelson, Tanya N. ;

Connolly, Mary B. ;

Farrer, Matthew J. ;

Demos, Michelle .

NEUROLOGY-GENETICS, 2016, 2 (06)

[2] PHENYTOIN-RESPONSIVE EPILEPTIC ENCEPHALOPATHY WITH A TANDEM DUPLICATION INVOLVING FGF12 [J].

Shi, Rui-Ming ;

Kobayashi, Tomoko ;

Kikuchi, Atsuo ;

Sato, Ryo ;

Uematsu, Mitsugu ;

An, Kumiko ;

Kure, Shigeo .

NEUROLOGY-GENETICS, 2017, 3 (01)

[3] Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy [J].

Siekierska, Aleksandra ;

Isrie, Mala ;

Liu, Yue ;

Scheldeman, Chloe ;

Vanthillo, Niels ;

Lagae, Lieven ;

de Witte, Peter A. M. ;

Van Esch, Hilde ;

Goldfarb, Mitchell ;

Buyse, Gunnar M. .

NEUROLOGY, 2016, 86 (23) :2162-2170

[4] Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation [J].

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 .

BRAIN & DEVELOPMENT, 2018, 40 (08) :728-732

← 1 →