Literature DB >> 22713812

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

Patra Yeetong1, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn, Vorasuk Shotelersuk.   

Abstract

Benign Adult Familial Myoclonic Epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical tremor or action myoclonus predominantly in the upper limbs, and generalized seizures. We investigated a Thai BAFME family. Clinical and electrophysiological studies revealed that 13 were affected with BAFME. There were a total of 24 individuals studied. Genetic analysis by genome-wide linkage study (GWLS) was performed using 400 microsatellite markers and excluded linkage of the previous BAFME loci, 8q23.3-q24.1, and 2p11.1-q12.2. GWLS showed that the disease-associated region in our Thai family was linked to a newly identified locus on chromosome 3q26.32-3q28. This locus represents the fourth chromosomal region for BAFME.

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Year:  2012        PMID： 22713812      PMCID： PMC3548266          DOI： 10.1038/ejhg.2012.133

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  11 in total

Review 1.  Spinocerebellar ataxias.

Authors:  Hélio A G Teive
Journal:  Arq Neuropsiquiatr       Date:  2009-12       Impact factor: 1.420

2.  Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.

Authors:  C Depienne; E Magnin; D Bouteiller; G Stevanin; C Saint-Martin; M Vidailhet; E Apartis; E Hirsch; E LeGuern; P Labauge; L Rumbach
Journal:  Neurology       Date:  2010-06-15       Impact factor: 9.910

3.  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

4.  Cortical tremor: a variant of cortical reflex myoclonus.

Authors:  A Ikeda; R Kakigi; N Funai; R Neshige; Y Kuroda; H Shibasaki
Journal:  Neurology       Date:  1990-10       Impact factor: 9.910

5.  Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME.

Authors:  F A de Falco; P Striano; A de Falco; S Striano; R Santangelo; A Perretti; P Balbi; M Cecconi; F Zara
Journal:  Neurology       Date:  2003-04-22       Impact factor: 9.910

6.  Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.

Authors:  Satsuki Mori; Masayuki Nakamura; Takeshi Yasuda; Shu-Ichi Ueno; Sunao Kaneko; Akira Sano
Journal:  J Hum Genet       Date:  2011-08-18       Impact factor: 3.172

7.  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

8.  Absence of linkage to 8q23.3-q24.1 and 2p11.1-q12.2 in a new BAFME pedigree in China: indication of a third locus for BAFME.

Authors:  Fei-Yan Deng; Jian Gong; Yun-Ci Zhang; Kang Wang; Su-Mei Xiao; Yuan-Neng Li; Shu-Feng Lei; Xiang-Ding Chen; Bo Xiao; Hong-Wen Deng
Journal:  Epilepsy Res       Date:  2005-07       Impact factor: 3.045

Review 9.  Familial benign nonprogressive myoclonic epilepsies.

Authors:  Pasquale Striano; Fabrizio A de Falco; Carlo Minetti; Federico Zara
Journal:  Epilepsia       Date:  2009-05       Impact factor: 5.864

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
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  15 in total

1.  The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Authors:  Jose Felix Martí-Massó; Alberto Bergareche; Vladimir Makarov; Javier Ruiz-Martinez; Ana Gorostidi; Adolfo López de Munain; Juan Jose Poza; Pasquale Striano; Joseph D Buxbaum; Coro Paisán-Ruiz
Journal:  J Mol Med (Berl)       Date:  2013-08-20       Impact factor: 4.599

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

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2018 Jul-Aug       Impact factor: 7.500

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.  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

5.  Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study.

Authors:  A W G Buijink; M Broersma; A M M van der Stouwe; S Sharifi; M A J Tijssen; J D Speelman; N M Maurits; A F van Rootselaar
Journal:  Cerebellum       Date:  2016-12       Impact factor: 3.847

Review 6.  Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

Authors:  Tom van den Ende; Sarvi Sharifi; Sandra M A van der Salm; Anne-Fleur van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-01-23

7.  Genetics and genomics in Thailand: challenges and opportunities.

Authors:  Vorasuk Shotelersuk; Chanin Limwongse; Surakameth Mahasirimongkol
Journal:  Mol Genet Genomic Med       Date:  2014-05-14       Impact factor: 2.183

8.  A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy.

Authors:  Lili Long; Yanmin Song; Linlin Zhang; Chongyu Hu; Jian Gong; Lin Xu; Hongyu Long; Luo Zhou; Yunci Zhang; Yong Zhang; Bo Xiao
Journal:  Neuropsychiatr Dis Treat       Date:  2015-02-25       Impact factor: 2.570

9.  MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Authors:  Uschi Lindert; Wayne A Cabral; Surasawadee Ausavarat; Siraprapa Tongkobpetch; Katja Ludin; Aileen M Barnes; Patra Yeetong; Maryann Weis; Birgit Krabichler; Chalurmpon Srichomthong; Elena N Makareeva; Andreas R Janecke; Sergey Leikin; Benno Röthlisberger; Marianne Rohrbach; Ingo Kennerknecht; David R Eyre; Kanya Suphapeetiporn; Cecilia Giunta; Joan C Marini; Vorasuk Shotelersuk
Journal:  Nat Commun       Date:  2016-07-06       Impact factor: 14.919

10.  Gray Matter Loss and Related Functional Connectivity Alterations in A Chinese Family With Benign Adult Familial Myoclonic Epilepsy.

Authors:  Ling-Li Zeng; Lili Long; Hui Shen; Peng Fang; Yanmin Song; Linlin Zhang; Lin Xu; Jian Gong; Yunci Zhang; Yong Zhang; Bo Xiao; Dewen Hu
Journal:  Medicine (Baltimore)       Date:  2015-10       Impact factor: 1.817
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