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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 16, 2025. (Total: 235382Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Benign Familial Infantile Epilepsy[original query]
PRRT2 mutations cause hemiplegic migraine.
Neurology 2012 Oct .
Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Brain & development 2012 Oct .
Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Epilepsia 2013 May 54 (5): e86-9.
Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Journal of human genetics 2017 Nov .
Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Molecular genetics & genomic medicine 2020 7 8 (9): e1376.
Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Brain : a journal of neurology 2021 6 144 (12): 3623-3634.
Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Frontiers of medicine 2021 11 15 (6): 877-886.
Chen Yulan, Chen Dianfu, Zhao Shaoyun, Liu Gonglu, Li Hongfu, Wu Zhi-Yi
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