Literature DB >> 12707452

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

F A de Falco1, P Striano, A de Falco, S Striano, R Santangelo, A Perretti, P Balbi, M Cecconi, F Zara.   

Abstract

Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.

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Year:  2003        PMID： 12707452     DOI： 10.1212/01.wnl.0000055874.24000.4a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  13 in total

1.  A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

Authors:  Rinki Ratnapriya; Joseph Vijai; Jayaram S Kadandale; Rajesh S Iyer; Kurupath Radhakrishnan; Anuranjan Anand
Journal:  Hum Genet       Date:  2010-05-14       Impact factor: 4.132

2.  Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Authors:  Cécile Saint-Martin; Delphine Bouteiller; Giovanni Stevanin; Cyprian Popescu; Céline Charon; Merle Ruberg; Stéphanie Baulac; Eric LeGuern; Pierre Labauge; Christel Depienne
Journal:  Neurogenetics       Date:  2007-11-09       Impact factor: 2.660

3.  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

4.  The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Authors:  Maurizio De Fusco; Riccardo Vago; Pasquale Striano; Carlo Di Bonaventura; Federico Zara; Davide Mei; Min Seuk Kim; Shmuel Muallem; Yunjia Chen; Qin Wang; Renzo Guerrini; Giorgio Casari
Journal:  Ann Neurol       Date:  2014-01-02       Impact factor: 10.422

5.  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

6.  Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Authors:  Francesca Madia; Pasquale Striano; Carlo Di Bonaventura; Arturo de Falco; Fabrizio A de Falco; Mario Manfredi; Giorgio Casari; Salvatore Striano; Carlo Minetti; Federico Zara
Journal:  Neurogenetics       Date:  2008-01-30       Impact factor: 2.660

7.  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

8.  UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.

Authors:  Takeo Kato; Gen Tamiya; Shingo Koyama; Tomohiro Nakamura; Satoshi Makino; Shigeki Arawaka; Toru Kawanami; Ikuo Tooyama
Journal:  ISRN Neurol       Date:  2012-09-17

Review 9.  Electrophysiologic assessments of involuntary movements: tremor and myoclonus.

Authors:  Hyun-Dong Park; Hee-Tae Kim
Journal:  J Mov Disord       Date:  2009-04-30

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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