Literature DB >> 14738428

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Pasquale Striano1, Rosanna Chifari, Salvatore Striano, Maurizio de Fusco, Maurizio Elia, Renzo Guerrini, Giorgio Casari, Maria Paola Canevini.   

Abstract

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant condition characterized by cortical tremor and generalized seizures, mapped on chromosome 8q24 by Japanese authors. Recently the same phenotype also was reported in European families, with linkage on chromosome 2. We present a new family with suggestion of linkage to chromosome 2p11.1-2q12.2 (lod score value, 1.55). This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1-q12.2.

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Year:  2004        PMID: 14738428     DOI: 10.1111/j.0013-9580.2004.39903.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  10 in total

1.  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

2.  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

3.  Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial.

Authors:  Pasquale Striano; Elan D Louis; Mario Manto
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

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.  Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy.

Authors:  Zeynep Aydin Özemir; Emel Oğuz Akarsu; Zeliha Matur; Ali Emre Öge; Betül Baykan
Journal:  Noro Psikiyatr Ars       Date:  2016-09-01       Impact factor: 1.339

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.  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

10.  Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Authors:  Mark A Corbett; Thessa Kroes; Liana Veneziano; Mark F Bennett; Rahel Florian; Amy L Schneider; Antonietta Coppola; Laura Licchetta; Silvana Franceschetti; Antonio Suppa; Aaron Wenger; Davide Mei; Manuela Pendziwiat; Sabine Kaya; Massimo Delledonne; Rachel Straussberg; Luciano Xumerle; Brigid Regan; Douglas Crompton; Anne-Fleur van Rootselaar; Anthony Correll; Rachael Catford; Francesca Bisulli; Shreyasee Chakraborty; Sara Baldassari; Paolo Tinuper; Kirston Barton; Shaun Carswell; Martin Smith; Alfredo Berardelli; Renee Carroll; Alison Gardner; Kathryn L Friend; Ilan Blatt; Michele Iacomino; Carlo Di Bonaventura; Salvatore Striano; Julien Buratti; Boris Keren; Caroline Nava; Sylvie Forlani; Gabrielle Rudolf; Edouard Hirsch; Eric Leguern; Pierre Labauge; Simona Balestrini; Josemir W Sander; Zaid Afawi; Ingo Helbig; Hiroyuki Ishiura; Shoji Tsuji; Sanjay M Sisodiya; Giorgio Casari; Lynette G Sadleir; Riaan van Coller; Marina A J Tijssen; Karl Martin Klein; Arn M J M van den Maagdenberg; Federico Zara; Renzo Guerrini; Samuel F Berkovic; Tommaso Pippucci; Laura Canafoglia; Melanie Bahlo; Pasquale Striano; Ingrid E Scheffer; Francesco Brancati; Christel Depienne; Jozef Gecz
Journal:  Nat Commun       Date:  2019-10-29       Impact factor: 14.919

  10 in total

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