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J-GLOBAL ID：200902259623795140   Reference number：08A0574665

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

STXBP1(MUNC18-1)をコードする遺伝子のde novo突然変異によって早期乳児てんかん性脳症が引き起こされる
Author (18)：
SAITSU Hirotomo

About SAITSU Hirotomo

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
KATO Mitsuhiro

About KATO Mitsuhiro

(Yamagata Univ. School of Medicine, Yamagata, JPN)

About Yamagata Univ. School of Medicine, Yamagata, JPN

, 
MIZUGUCHI Takeshi

About MIZUGUCHI Takeshi

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
HAMADA Keisuke

About HAMADA Keisuke

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
OSAKA Hitoshi

About OSAKA Hitoshi

(Kanagawa Children’s Medical Center, Yokohama, JPN)

About Kanagawa Children’s Medical Center, Yokohama, JPN

, 
TOHYAMA Jun

About TOHYAMA Jun

(Nishi-Niigata Chuo National Hospital, Niigata, JPN)

About Nishi-Niigata Chuo National Hospital, Niigata, JPN

, 
URUNO Katsuhisa

About URUNO Katsuhisa

(Yamagata National Hospital, Yamagata, JPN)

About Yamagata National Hospital, Yamagata, JPN

, 
KUMADA Satoko

About KUMADA Satoko

(Tokyo Metropolitan Neurological Hospital, Fuchu, JPN)

About Tokyo Metropolitan Neurological Hospital, Fuchu, JPN

, 
NISHIYAMA Kiyomi

About NISHIYAMA Kiyomi

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
NISHIMURA Akira

About NISHIMURA Akira

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
OKADA Ippei

About OKADA Ippei

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
YOSHIMURA Yukiko

About YOSHIMURA Yukiko

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
HIRAI Syu-ichi

About HIRAI Syu-ichi

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
KUMADA Tatsuro

About KUMADA Tatsuro

(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)

About Hamamatsu Univ. School of Medicine, Hamamatsu, JPN

, 
HAYASAKA Kiyoshi

About HAYASAKA Kiyoshi

(Yamagata Univ. School of Medicine, Yamagata, JPN)

About Yamagata Univ. School of Medicine, Yamagata, JPN

, 
FUKUDA Atsuo

About FUKUDA Atsuo

(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)

About Hamamatsu Univ. School of Medicine, Hamamatsu, JPN

, 
OGATA Kazuhiro

About OGATA Kazuhiro

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN

, 
MATSUMOTO Naomichi

About MATSUMOTO Naomichi

(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)

About Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN


Material：
Nature Genetics  (Nat Genet)

About Nature Genetics


Volume： 40  Issue： 6  Page： 782-788  Publication year： Jun. 2008 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)
Thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
*gene

About gene

, 
*epilepsy

About epilepsy

, 
autosome

About autosome

, 
missense mutation

About missense mutation

, 
chromosomal aberration

About chromosomal aberration

, 
exocytosis

About exocytosis

, 
synaptic vesicle

About synaptic vesicle

, 
transmembrane protein

About transmembrane protein

, 
*brain disease

About brain disease

, 
woman

About woman

, 
human(primates)

About human(primates)

, 
baby

About baby

, 
protein binding

About protein binding


Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
*MUNC18-1遺伝子

About MUNC18-1遺伝子

, 
*STXBP1遺伝子

About STXBP1遺伝子

, 
syntaxin

About syntaxin

, 
*epileptic encephalopathy

About epileptic encephalopathy

, 
chromosome 9

About chromosome 9


JST classification (1)：
JST classification
Category name(code) classified by JST.
Genetic variation 
(EC01030Y)

About Genetic variation

Terms in the title (2)：
Terms in the title
Keywords automatically extracted from the title.
遺伝子

About 遺伝子

, 
早期乳児てんかん性脳症

About 早期乳児てんかん性脳症


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