Epilepsy with auditory features:: A LGI1 gene mutation suggests a loss-of function mechanism

被引：49

作者：

Pizzuti, A

Flex, E

Di Bonaventura, C

Dottorini, T

Egeo, G

Manfredi, M

Dallapiccola, B

Giallonardo, AT

机构：

[1] Univ Roma La Sapienza, Dipartimento Med Sperimentale & Patol, Rome, Italy

[2] Osped Casa Sollievo Sofferenza San Giovanni Roton, IRCCS, Ist Mendel, Rome, Italy

[3] Univ Roma La Sapienza, Dipartimento Sci Neurol, Clin Neurol 3, I-00185 Rome, Italy

[4] IRCCS, Ist Neuromed Pozzilli Isernia, Rome, Italy

来源：

ANNALS OF NEUROLOGY | 2003年 / 53卷 / 03期

关键词：

D O I：

10.1002/ana.10492

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgil signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.

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页码：396 / 399

页数：4

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