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Elsevier电子期刊(63)

在“Elsevier电子期刊”中，命中：63条，耗时：小于0.01 秒

在所有数据库中总计命中：78条

1.Case report: Homozygous PRRT2 mutation in ICCA Egyptian family with reduced penetrance

作者：Nirmeen A. Kishk^a ; Wessam E. Sharaf-Eldin^b ; ^{wessam_sharafeldin@yahoo.com} ; Heba Saher^c ; Mona Essawi^b

关键词：Infantile seizure ; Paroxysmal choreoathetosis ; Mutation ; PRRT2 gene

刊名：Meta Gene

出版年：2017

2.Lamotrigine monotherapy for paroxysmal kinesigenic dyskinesia in children

作者：Feng Li ; ^{lilifefe@163.com" class="auth_mail" title="E-mail the corresponding author} ; Zhong-dong Lin ; Ying Hu ; Wei Li ; Chao-chao Xue ; Neha D. Poonit

关键词：BFIE ; benign familial infantile epilepsy ; BFNE ; benign familial neonatal epilepsy ; CBZ ; carbamazepine ; CwG ; convulsions with gastroenteritis ; EEG ; electroencephalography ; HM ; families with hemiplegic migraine ; ICCA ; infantile convulsions with choreoathetosis ; LTG ; lamotrigine ; OXC ; oxcarbazepine ; PKD ; paroxysmal kinesigenic dyskinesia ; PRRT2 ; proline-rich transmembrane protein 2

刊名：Seizure

出版年：2016

3.P146 - 2496: Clinical and genetic profile of two families with paroxysmal dyskinesia

作者：A. Mosquera Gorostidi ; E. Gembero Esarte ; M.A. Ramos Arroyo ; S. Aguilera Albesa ; M.E. Yoldi Petri

刊名：European Journal of Paediatric Neurology

出版年：2015

4.Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

作者：Noriko Sangu^a ; ^b ; ^{sangu.noriko@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Keiko Shimojima^b ; ^{shimojima.keiko@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Okumura Akihisa^c ; ^{okumura.akihisa.479@mail.aichi-med-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Tomohiro Ando^a ; ^{tando@oms.twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Toshiyuki Yamamoto^b ; ^{yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：Proline-rich transmembrane protein 2 (PRRT2) ; Benign partial epilepsy in infancy (BPEI) ; Benign familial infantile epilepsy (BFIE) ; Paroxysmal kinesigenic dyskinesia (PKD) ; Infantile convulsions and choreoathetosis syndrome (ICCA)

刊名：Epilepsy Research

出版年：2015

5.Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

作者：Jun-Ling Wang ; Xiao Mao ; Zheng-Mao Hu ; Jia-Da Li ; Nan Li ; Ji-Feng Guo ; Hong Jiang ; Lu Shen ; Jin Li ; Yu-Ting Shi ; Kun Xia ; Jing-Yu Liu ; Wei-Ping Liao ; Bei-Sha Tang

关键词：BFIS ; benign familial infantile seizures ; PKD ; paroxysmal kinesigenic dyskinesias ; PED ; paroxysmal exercise-induced dyskinesia ; PNKD ; paroxysmal non-kinesigenic dyskinesia ; PxDs ; paroxysmal dyskinesis ; ICCA ; infantile convulsions and choreoathetosis ; PRRT

刊名：Neuroscience Letters

出版年：2013

6.Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

作者：Atsushi Ishii^a ; ^b ; ^c ; Sawa Yasumoto^a ; Yukiko Ihara^a ; ^b ; Takahito Inoue^a ; Takako Fujita^a ; Noriko Nakamura^a ; Masaharu Ohfu^a ; Yushiro Yamashita^d ; Hideo Takatsuka^e ; Toshiaki Taga^f ; Rie Miyata^g ; Masahiro Ito^h ; Hiroshi Tsuchiyaⁱ ; Taro Matsuoka^j ; Tetsuya Kitao^k ; Kiyotaka Murakami^k ; Wang-Tso Lee^l ; Sunao Kaneko^m ; Shinichi Hirose^a ; ^b ; ^{hirose@fukuoka-u.ac.jp}

关键词：PRRT2 ; Benign familial infantile epilepsy (BFIE) ; Benign convulsions with mild gastroenteritis (CwG) ; Benign familial neonatal epilepsy (BFNE) ; Paroxysmal kinesigenic choreoathetosis (PKC) ; Infantile convulsion with paroxysmal choreoathetosis (ICCA)

刊名：Brain and Development

出版年：2013

7.Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes

作者：Hiroyuki Torisu^a ; ^b ; ^{htorys@pediatr.med.kyushu-u.ac.jp" class="auth_mail} ; Kyoko Watanabe^c ; Keiko Shimojima^d ; Midori Sugawara^d ; Masafumi Sanefuji^a ; Yoshito Ishizaki^a ; Yasunari Sakai^a ; Hironori Yamashita^c ; Toshiyuki Yamamoto^d ; Toshiro Hara^a

关键词：Infantile focal epilepsy ; Paroxysmal kinesigenic dyskinesia ; Infantile convulsion and paroxysmal choreoathetosis (ICCA) ; PRRT2 ; Mutation ; c.649_650insC

刊名：Brain and Development

出版年：April, 2014

8.PP13.2 - 3042: Infantile spasms in an infant with anti-NMDA receptor encephalitis secondary to HSV-1 encephalitis

作者：I. Má ; laga ; I. Roncero ; L. Santoveñ ; a-Gonzá ; lez ; R. Blanco-Lago ; S. Rekarte ; T. Armangué ; J. Dalmau

刊名：European Journal of Paediatric Neurology

出版年：2015

9.Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation

作者：Kang Wang ; Xiaoyu Zhao ; Yue Du ; Fangping He ; Guoping Peng ; Benyan Luo

关键词：Paroxysmal dyskinesia ; Phenotype ; Familial occurrence ; Trigger ; PRRT2

刊名：Brain and Development

出版年：2013

10.Unusual variability of PRRT2 linked phenotypes within a family

作者：Frieder Brueckner^a ; ^{friederbrueckner@gmail.com" class="auth_mail} ; Bernhard Kohl^a ; Burkhard Puest^a ; Silke Gassner^a ; Judith Osseforth^b ; Matthias Lindenau^b ; Stefan Stodieck^b ; Saskia Biskup^c ; ^d ; Ebba Lohmann^b ; ^c ; ^d ; ^e

关键词：PRRT2 ; Mutation ; Paroxysmal kinesigenic dyskinesias ; Phenotype ; Asymptomatic mutation carrier ; Benign infantile familial convulsions

刊名：European Journal of Paediatric Neurology

出版年：July 2014

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