A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit

被引：23

作者：

Annesi, G

Sofia, V

Gambardella, A

Candiano, ICC

Spadafora, P

Annesi, F

Cutuli, N

De Marco, EV

Civitelli, D

Carrideo, S

Tarantino, P

Barone, R

Zappia, M

Quattrone, A

机构：

[1] CNR, Inst Neurol Sci, Cosenza, Italy

[2] Univ Catania, Inst Neurol, I-95124 Catania, Italy

[3] Univ Catania, Inst Pediat, I-95124 Catania, Italy

[4] Univ Magna Graecia, Inst Neurol, Catanzaro, Italy

来源：

EPILEPSIA | 2004年 / 45卷 / 03期

关键词：

D O I：

10.1111/j.0013-9580.2004.33203.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：294 / 295

页数：2

共 6 条

[1] AXILLA SKIN BIOPSY - A RELIABLE TEST FOR THE DIAGNOSIS OF LAFORAS DISEASE [J].

BUSARD, HLSM ;

GABREELSFESTEN, AAWM ;

RENIER, WO ;

GABREELS, FJM ;

STADHOUDERS, AM .

ANNALS OF NEUROLOGY, 1987, 21 (06) :599-601

[2] Mutations in NHLRC1 cause progressive myoclonus epilepsy [J].

Chan, EM ;

Young, EJ ;

Ianzano, L ;

Munteanu, I ;

Zhao, XC ;

Christopoulos, CC ;

Avanzini, G ;

Elia, M ;

Ackerley, CA ;

Jovic, NJ ;

Bohlega, S ;

Andermann, E ;

Rouleau, GA ;

Delgado-Escueta, AV ;

Minassian, BA ;

Scherer, SW .

NATURE GENETICS, 2003, 35 (02) :125-127

[3] Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy:: exon 1 mutations associate with an early-onset cognitive deficit subphenotype [J].

Ganesh, S ;

Delgado-Escueta, A ;

Suzuki, T ;

Francheschetti, S ;

Riggio, C ;

Avanzini, G ;

Rabinowicz, A ;

Bohlega, S ;

Bailey, J ;

Alonso, ME ;

Rasmussen, A ;

Thomson, AE ;

Ochoa, A ;

Prado, AJ ;

Medina, MT ;

Yamakawa, K .

HUMAN MOLECULAR GENETICS, 2002, 11 (11) :1263-1271

[4] 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

[5]

SERRATOSA JM, 1995, HUM MOL GENET, V4, P1657

[6] 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

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