Literature DB >> 30254519

The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies.

Ingrid E Scheffer.   

Abstract

Entities:  

Year:  2018        PMID： 30254519      PMCID： PMC6145392          DOI： 10.5698/1535-7597.18.4.238

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  10 in total

1.  δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

Authors:  Anne-Fleur van Rootselaar; Alexander J Groffen; Boukje de Vries; Petra M C Callenbach; Gijs W E Santen; Stephany Koelewijn; Lisanne S Vijfhuizen; Arthur Buijink; Marina A J Tijssen; Arn M J M van den Maagdenberg
Journal:  Neurology       Date:  2017-11-10       Impact factor: 9.910

2.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Authors:  M Mikami; T Yasuda; A Terao; M Nakamura; S Ueno; H Tanabe; T Tanaka; T Onuma; Y Goto; S Kaneko; A Sano
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Authors:  Hiroyuki Ishiura; Koichiro Doi; Jun Mitsui; Jun Yoshimura; Miho Kawabe Matsukawa; Asao Fujiyama; Yasuko Toyoshima; Akiyoshi Kakita; Hitoshi Takahashi; Yutaka Suzuki; Sumio Sugano; Wei Qu; Kazuki Ichikawa; Hideaki Yurino; Koichiro Higasa; Shota Shibata; Aki Mitsue; Masaki Tanaka; Yaeko Ichikawa; Yuji Takahashi; Hidetoshi Date; Takashi Matsukawa; Junko Kanda; Fumiko Kusunoki Nakamoto; Mana Higashihara; Koji Abe; Ryoko Koike; Mutsuo Sasagawa; Yasuko Kuroha; Naoya Hasegawa; Norio Kanesawa; Takayuki Kondo; Takefumi Hitomi; Masayoshi Tada; Hiroki Takano; Yutaka Saito; Kazuhiro Sanpei; Osamu Onodera; Masatoyo Nishizawa; Masayuki Nakamura; Takeshi Yasuda; Yoshio Sakiyama; Mieko Otsuka; Akira Ueki; Ken-Ichi Kaida; Jun Shimizu; Ritsuko Hanajima; Toshihiro Hayashi; Yasuo Terao; Satomi Inomata-Terada; Masashi Hamada; Yuichiro Shirota; Akatsuki Kubota; Yoshikazu Ugawa; Kishin Koh; Yoshihisa Takiyama; Natsumi Ohsawa-Yoshida; Shoichi Ishiura; Ryo Yamasaki; Akira Tamaoka; Hiroshi Akiyama; Taisuke Otsuki; Akira Sano; Akio Ikeda; Jun Goto; Shinichi Morishita; Shoji Tsuji
Journal:  Nat Genet       Date:  2018-03-05       Impact factor: 38.330

4.  A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

Authors:  Patra Yeetong; Surasawadee Ausavarat; Roongroj Bhidayasiri; Krisna Piravej; Nath Pasutharnchat; Tayard Desudchit; Chaipat Chunharas; Jakrin Loplumlert; Chusak Limotai; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

5.  Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.

Authors:  N M Plaster; E Uyama; M Uchino; T Ikeda; K M Flanigan; I Kondo; L J Ptácek
Journal:  Neurology       Date:  1999-10-12       Impact factor: 9.910

6.  Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Authors:  Douglas E Crompton; Lynette G Sadleir; Catherine J Bromhead; Melanie Bahlo; Susannah T Bellows; Todor Arsov; Rosemary Harty; Kate M Lawrence; John W Dunne; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Arch Neurol       Date:  2012-04

7.  A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.

Authors:  Katherine B Howell; Stefanie Eggers; Kim Dalziel; Jessica Riseley; Simone Mandelstam; Candace T Myers; Jacinta M McMahon; Amy Schneider; Gemma L Carvill; Heather C Mefford; Ingrid E Scheffer; A Simon Harvey
Journal:  Epilepsia       Date:  2018-05-11       Impact factor: 5.864

8.  Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Authors:  Lyndal Henden; Saskia Freytag; Zaid Afawi; Sara Baldassari; Samuel F Berkovic; Francesca Bisulli; Laura Canafoglia; Giorgio Casari; Douglas Ewan Crompton; Christel Depienne; Jozef Gecz; Renzo Guerrini; Ingo Helbig; Edouard Hirsch; Boris Keren; Karl Martin Klein; Pierre Labauge; Eric LeGuern; Laura Licchetta; Davide Mei; Caroline Nava; Tommaso Pippucci; Gabrielle Rudolf; Ingrid Eileen Scheffer; Pasquale Striano; Paolo Tinuper; Federico Zara; Mark Corbett; Melanie Bahlo
Journal:  Hum Genet       Date:  2016-07-01       Impact factor: 4.132

9.  Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature.

Authors:  Sarvi Sharifi; Eleonora Aronica; Johannes H T M Koelman; Marina A J Tijssen; Anne-Fleur Van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-08-28

10.  Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

Authors:  R Guerrini; P Bonanni; A Patrignani; P Brown; L Parmeggiani; P Grosse; P Brovedani; F Moro; P Aridon; R Carrozzo; G Casari
Journal:  Brain       Date:  2001-12       Impact factor: 13.501
  10 in total
  1 in total

1.  [In vitro regeneration of tissue engineered cartilage and its clinical application for nasal reconstruction].

Authors:  Pengjie Ren; Yihao Xu; Fei Fan; Le Tian; Xiaona Lu; Jianjun You; Huan Wang; Ruobing Zheng
Journal:  Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi       Date:  2021-02-15
  1 in total

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