A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes

被引：17

作者：

de Bellescize, Julitta ^{[2
]}

Boutry, Nadia ^{[1
,3
]}

Chabrol, Elodie ^{[4
]}

Andre-Obadia, Nathalie ^{[5
]}

Arzimanoglou, Alexis ^{[2
]}

Leguern, Eric ^{[4
]}

Baulac, Stephanie ^{[4
]}

Callender, Alain ^{[1
,3
]}

Ryvlin, Philippe ^{[2
,6
,7
]}

Lesca, Gaetan ^{[1
,3
]}

机构：

[1] Hop Edouard Herriot, Serv Genet Mol & Clin, F-69437 Lyon, France

[2] Hosp Civils Lyon, Hop Femme Mere Enfant, Serv Epilepsie Sommeil Explorat Fonct Neurolopedi, Lyon, France

[3] CTRS IDEE, Lyon, France

[4] Grp Hosp Pitie Salpetriere, INSERM, UMR 679, F-75634 Paris, France

[5] Ctr Hosp Lyon Sud, Serv Explorat Fonct Neurol, Lyon, France

[6] Univ Lyon 1, INSERM, U821, Lyon, France

[7] Neurosci Federat Inst Lyon, Lyon, France

来源：

EPILEPSY RESEARCH | 2009年 / 85卷 / 01期

关键词：

Autosomal dominant lateral temporal epilepsy (ADLTE); LGI1; Epitempin; Mutation; Genetics; AUDITORY FEATURES; LOBE EPILEPSY; MUTATIONS; GENE;

D O I：

10.1016/j.eplepsyres.2009.02.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in LGI1 have been reported in several families with autosomal dominant lateral temporal epilepsy. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：118 / 122

页数：5

共 16 条

[1] Two novel epilepsy-linked mutations leading to a loss of function of LGI1 [J].

Chabrol, Elodie ;

Popescu, Cyprian ;

Gourfinkel-An, Isabelle ;

Trouillard, Oriane ;

Depienne, Christel ;

Senechal, Kristen ;

Baulac, Michel ;

LeGuern, Eric ;

Baulac, Stephanie .

ARCHIVES OF NEUROLOGY, 2007, 64 (02) :217-222

[2] The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins [J].

Gu, WL ;

Wevers, A ;

Schröder, H ;

Grzeschik, KH ;

Derst, C ;

Brodtkorb, E ;

de Vos, R ;

Steinlein, OK .

FEBS LETTERS, 2002, 519 (1-3) :71-76

[3] Autosomal dominant lateral temporal epilepsy:: Two families with novel mutations in the LGI1 gene [J].

Hedera, P ;

Abou-Khalil, B ;

Crunk, AE ;

Taylor, KA ;

Haines, JL ;

Sutcliffe, JS .

EPILEPSIA, 2004, 45 (03) :218-222

[4] 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

[5] A de novo LGl1 mutation causing idiopathic partial epilepsy with telephone-induced seizures [J].

Michelucci, R. ;

Mecarelli, O. ;

Bovo, G. ;

Bisulli, F. ;

Testoni, S. ;

Striano, P. ;

Striano, S. ;

Tinuper, P. ;

Nobile, C. .

NEUROLOGY, 2007, 68 (24) :2150-2151

[6] Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families [J].

Michelucci, R ;

Poza, JJ ;

Sofia, V ;

de Feo, MR ;

Binelli, S ;

Bisulli, F ;

Scudellaro, E ;

Simionati, B ;

Zimbello, R ;

d'Orsi, G ;

Passarelli, D ;

Avoni, P ;

Avanzini, G ;

Tinuper, P ;

Biondi, R ;

Valle, G ;

Mautner, VF ;

Stephani, U ;

Tassinari, CA ;

Moschonas, NK ;

Siebert, R ;

de Munain, AL ;

Perez-Tur, J ;

Nobile, C .

EPILEPSIA, 2003, 44 (10) :1289-1297

[7] LGI1 mutations in autosomal dominant partial epilepsy with auditory features [J].

Ottman, R ;

Winawer, MR ;

Kalachikov, S ;

Barker-Cummings, C ;

Gilliam, TC ;

Pedley, TA ;

Hauser, WA .

NEUROLOGY, 2004, 62 (07) :1120-1126

[8] 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

[9] Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation [J].

Pisano, T ;

Marini, T ;

Brovedani, P ;

Brizzolara, T ;

Pruna, D ;

Mei, D ;

Moro, T ;

Cianchetti, C ;

Guerrini, TR .

EPILEPSIA, 2005, 46 (01) :118-123

[10] Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features [J].

Rosanoff, Michael J. ;

Ottman, Ruth .

NEUROLOGY, 2008, 71 (08) :567-571

← 1 2 →