Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

被引：39

作者：

Fertig, E

Lincoln, A

Martinuzzi, A

Mattson, RH

Hisama, FM

机构：

[1] Yale Univ, Sch Med, Dept Neurol, Neurogenet Program, New Haven, CT 06520 USA

[2] Conegliano Res Ctr, E Medea Sci Inst, Conegliano, Italy

来源：

NEUROLOGY | 2003年 / 60卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000063324.39980.4A

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 rare idiopathic epilepsy syndrome caused by mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene. The authors report that molecular genetic studies in seven affected family members identified a novel F318C substitution that alters a highly conserved residue in a predicted repeat domain of unknown function. This report suggests that this domain may participate in the development of the ADPEAF phenotype.

引用

页码：1687 / 1690

页数：4

共 13 条

[1] Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24 [J].

Brodtkorb, E ;

Gu, WL ;

Nakken, KO ;

Fischer, C ;

Steinlein, TK .

EPILEPSIA, 2002, 43 (03) :228-235

[2] A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors [J].

Chernova, OB ;

Somerville, RPT ;

Cowell, JK .

ONCOGENE, 1998, 17 (22) :2873-2881

[3] Epilepsy research gets new guidance [J].

Cowell, JK .

NATURE MEDICINE, 2002, 8 (03) :219-220

[4] LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures [J].

Gu, WL ;

Brodtkorb, E ;

Steinlein, OK .

ANNALS OF NEUROLOGY, 2002, 52 (03) :364-367

[5] Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features [J].

Kalachikov, S ;

Evgrafov, O ;

Ross, B ;

Winawer, M ;

Barker-Cummings, C ;

Boneschi, FM ;

Choi, C ;

Morozov, P ;

Das, K ;

Teplitskaya, E ;

Yu, A ;

Cayanis, E ;

Penchaszadeh, G ;

Kottmann, AH ;

Pedley, TA ;

Hauser, WA ;

Ottman, R ;

Gilliam, TC .

NATURE GENETICS, 2002, 30 (03) :335-341

[6] Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy [J].

Morante-Redolat, JM ;

Gorostidi-Pagola, A ;

Piquer-Sirerol, S ;

Sáenz, A ;

Poza, JJ ;

Galán, J ;

Gesk, S ;

Sarafidou, T ;

Mautner, VF ;

Binelli, S ;

Staub, E ;

Hinzmann, B ;

French, L ;

Prud'homme, JF ;

Passarelli, D ;

Scannapieco, P ;

Tassinari, CA ;

Avanzini, G ;

Martí-Massó, JF ;

Kluwe, L ;

Deloukas, P ;

Moschonas, NK ;

Michelucci, R ;

Siebert, R ;

Nobile, C ;

Pérez-Tur, J ;

de Munain, AL .

HUMAN MOLECULAR GENETICS, 2002, 11 (09) :1119-1127

[7] LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q [J].

OTTMAN, R ;

RISCH, N ;

HAUSER, WA ;

PEDLEY, TA ;

LEE, JH ;

BARKERCUMMINGS, C ;

LUSTENBERGER, A ;

NAGLE, KJ ;

LEE, KS ;

SCHEUER, ML ;

NEYSTAT, M ;

SUSSER, M ;

WILHELMSEN, KC .

NATURE GENETICS, 1995, 10 (01) :56-60

[8] Epilepsy with auditory features:: A LGI1 gene mutation suggests a loss-of function mechanism [J].

Pizzuti, A ;

Flex, E ;

Di Bonaventura, C ;

Dottorini, T ;

Egeo, G ;

Manfredi, M ;

Dallapiccola, B ;

Giallonardo, AT .

ANNALS OF NEUROLOGY, 2003, 53 (03) :396-399

[9]

Poza JJ, 1999, ANN NEUROL, V45, P182, DOI 10.1002/1531-8249(199902)45:2<182::AID-ANA8>3.0.CO

[10]

2-G

← 1 2 →