Identification of new and common mutations in the EPM2A gene in Lafora disease

被引：38

作者：

Minassian, BA

Ianzano, L

Delgado-Escueta, AV

Scherer, SW

机构：

[1] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Toronto, ON M5G 1X8, Canada

[4] Univ Calif Los Angeles, Sch Med, Dept Neurol, Comprehens Epilepsy Program, Los Angeles, CA 90024 USA

[5] Univ Calif Los Angeles, Sch Med, Brain Res Inst, Los Angeles, CA 90024 USA

[6] W Los Angeles DVA Med Ctr, Los Angeles, CA USA

来源：

NEUROLOGY | 2000年 / 54卷 / 02期

关键词：

Lafora disease; EPM2A; Laforin; epilepsy; mutation; EPM2B;

D O I：

10.1212/WNL.54.2.488

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. in this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening.

引用

页码：488 / 490

页数：3

共 11 条

[1] SWEAT GLAND DUCT CELLS IN LAFORA DISEASE - DIAGNOSIS BY SKIN BIOPSY [J].

CARPENTER, S ;

KARPATI, G .

NEUROLOGY, 1981, 31 (12) :1564-1568

[2] BIOPSY RESULTS IN A KINDRED WITH LAFORA DISEASE [J].

DRURY, I ;

BLAIVAS, M ;

ABOUKHALIL, BW ;

BEYDOUN, A .

ARCHIVES OF NEUROLOGY, 1993, 50 (01) :102-105

[3]

Goebel Hans H., 1998, Brain Pathology, V8, P809

[4] Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 [J].

Lafreniere, RG ;

Rochefort, DL ;

Chretien, N ;

Rommens, JM ;

Cochius, JI ;

Kalviainen, R ;

Nousiainen, U ;

Patry, G ;

Farrell, K ;

Soderfeldt, B ;

Federico, A ;

Hale, BR ;

Cossio, OH ;

Sorensen, T ;

Pouliot, MA ;

Kmiec, T ;

Uldall, P ;

Janszky, J ;

Pranzatelli, MR ;

Andermann, F ;

Andermann, E ;

Rouleau, GA .

NATURE GENETICS, 1997, 15 (03) :298-302

[5] Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy [J].

Minassian, BA ;

Lee, JR ;

Herbrick, JA ;

Huizenga, J ;

Soder, S ;

Mungall, AJ ;

Dunham, I ;

Gardner, R ;

Fong, CG ;

Carpenter, S ;

Jardim, L ;

Satishchandra, P ;

Andermann, E ;

Snead, OC ;

Lopes-Cendes, I ;

Tsui, LC ;

Delgado-Escueta, AV ;

Rouleau, GA ;

Scherer, SW .

NATURE GENETICS, 1998, 20 (02) :171-174

[6]

Minassian BA, 1999, ANN NEUROL, V45, P262, DOI 10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO

[7]

2-9

[8] A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element [J].

Reiter, LT ;

Murakami, T ;

Koeuth, T ;

Pentao, L ;

Muzny, DM ;

Gibbs, RA ;

Lupski, JR .

NATURE GENETICS, 1996, 12 (03) :288-297

[9] A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) [J].

Serratosa, JM ;

Gómez-Garre, P ;

Gallardo, ME ;

Anta, B ;

de Bernabé, DBV ;

Lindhout, D ;

Augustijn, PB ;

Tassinari, CA ;

Michelucci, R ;

Malafosse, A ;

Topcu, M ;

Grid, D ;

Dravet, C ;

Berkovic, SF ;

de Córdoba, SR .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :345-352

[10] MIRS ARE CLASSIC, TRANSFER-RNA-DERIVED SINES THAT AMPLIFIED BEFORE THE MAMMALIAN RADIATION [J].

SMIT, AFA ;

RIGGS, AD .

NUCLEIC ACIDS RESEARCH, 1995, 23 (01) :98-102

← 1 2 →