A de novo LGI1 mutation in sporadic partial epilepsy with auditory features

被引:43
作者
Bisulli, F [1 ]
Tinuper, P
Scudellaro, E
Naldi, I
Bagattin, A
Avoni, P
Michelucci, R
Nobile, C
机构
[1] Univ Bologna, Dept Neurol Sci, Bologna, Italy
[2] CNR, Inst Neurosci, Sect Padua, Padua, Italy
[3] Univ Padua, Dept Biol, Padua, Italy
[4] Bellaria Hosp, Epilepsy Ctr, Dept Neurosci, Bologna, Italy
关键词
D O I
10.1002/ana.20218
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:455 / 456
页数:2
相关论文
共 5 条
[1]   Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases [J].
Bisulli, F ;
Tinuper, P ;
Avoni, P ;
Striano, P ;
Striano, S ;
d'Orsi, G ;
Vignatelli, L ;
Bagattin, A ;
Scudellaro, E ;
Florindo, I ;
Nobile, C ;
Tassinari, CA ;
Baruzzi, A ;
Michelucci, R .
BRAIN, 2004, 127 :1343-1352
[2]   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
[3]   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
[4]   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
[5]   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