Benign adult familial myoclonic epilepsy - Genetic heterogeneity and allelism with ADCME

被引：60

作者：

de Falco, FA

Striano, P

de Falco, A

Striano, S

Santangelo, R

Perretti, A

Balbi, P

Cecconi, M

Zara, F

机构：

[1] Loreto Nuovo Hosp, Dept Neurol, Naples, Italy

[2] Univ Naples Federico II, Dept Neurol Sci, Serv Neurophysiopathol, Naples, Italy

[3] Univ Naples Federico II, Epilepsy Ctr, Naples, Italy

[4] Galliera Hosp, Lab Human Genet, Genoa, Italy

[5] G Gaslini Inst Children, Operat Unit Neuromuscular Dis, Genoa, Italy

来源：

NEUROLOGY | 2003年 / 60卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000055874.24000.4A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：1381 / 1385

页数：5

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