Familial temporal lobe epilepsy with febrile seizures

被引:41
作者
Depondt, C
Van Paesschen, W
Matthijs, G
Legius, E
Martens, K
Demaerel, P
Wilms, G
机构
[1] Univ Hosp, Dept Neuroradiol, Louvain, Belgium
[2] Univ Hosp, Dept Neurol, Louvain, Belgium
[3] Univ Hosp, Ctr Human Genet, Louvain, Belgium
关键词
D O I
10.1212/WNL.58.9.1429
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Described are the clinical, EEG, MR, and genetic characteristics of 106 members of a family with autosomal dominant temporal lobe epilepsy (TLE) and febrile seizures (FS), with 22 affected individuals. Eleven patients had a history of FS, and 10 patients had TLE. EEG showed epileptic activity in five. None had hippocampal sclerosis. There was no evidence for linkage to 13 candidate loci. This large family with autosomal dominant TLE has a distinct phenotype and shows no linkage to known candidate regions for familial partial epilepsy and FS.
引用
收藏
页码:1429 / 1433
页数:5
相关论文
共 9 条
[1]  
[Anonymous], 1981, Epilepsia, V22, P489
[2]   PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].
不详 .
EPILEPSIA, 1989, 30 (04) :389-399
[3]   Hippocampal malrotation with normal corpus callosum:: a new entity? [J].
Barsi, P ;
Kenéz, J ;
Solymosi, D ;
Kulin, A ;
Halász, P ;
Rásonyi, G ;
Janszky, J ;
Kalóczkai, A ;
Barcs, G ;
Neuwirth, M ;
Paraicz, É ;
Siegler, Z ;
Morvai, M ;
Jerney, J ;
Kassay, M ;
Altmann, A .
NEURORADIOLOGY, 2000, 42 (05) :339-345
[4]   Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31 [J].
Baulac, S ;
Picard, F ;
Herman, A ;
Feingold, J ;
Genin, E ;
Hirsch, E ;
Prud'homme, JF ;
Baulac, M ;
Brice, A ;
LeGuern, E .
ANNALS OF NEUROLOGY, 2001, 49 (06) :786-792
[5]   Familial temporal lobe epilepsy: A common disorder identified in twins [J].
Berkovic, SF ;
McIntosh, A ;
Howell, RA ;
Mitchell, A ;
Sheffield, LJ ;
Hopper, JL .
ANNALS OF NEUROLOGY, 1996, 40 (02) :227-235
[6]   Epilepsies with single gene inheritance [J].
Berkovic, SF ;
Scheffer, IE .
BRAIN & DEVELOPMENT, 1997, 19 (01) :13-18
[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]   VALIDATION OF A QUESTIONNAIRE FOR CLINICAL SEIZURE DIAGNOSIS [J].
REUTENS, DC ;
HOWELL, RA ;
GEBERT, KE ;
BERKOVIC, SF .
EPILEPSIA, 1992, 33 (06) :1065-1071
[9]   Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B [J].
Wallace, RH ;
Wang, DW ;
Singh, R ;
Scheffer, IE ;
George, AL ;
Phillips, HA ;
Saar, K ;
Reis, A ;
Johnson, EW ;
Sutherland, GR ;
Berkovic, SF ;
Mulley, JC .
NATURE GENETICS, 1998, 19 (04) :366-370