Familial mesial temporal lobe epilepsy (FMTLE): A clinical and genetic study of 15 Italian families

Journal of Neurology

Volumn 255, Issue 1, 2008, Pages 16-23

  Striano, P ^a,k   Gambardella, A ^b,c   Coppola, A ^a   Di Bonaventura, C ^d   Bovo, G ^e   Diani, E ^e   Boaretto, F ^f   Egeo, G ^d   Ciampa, C ^a   Labate, A ^b,c   Testoni, S ^g   Passarelli, D ^h   Manna, I ^c   Sferro, C ⁱ   Aguglia, U ^j   Caranci, F ^a   Giallonardo, A T ^d   Striano, S ^a   Nobile, C ^e   Michelucci, R ^g  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e CNR   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g BELLARIA HOSPITAL   (Italy)

^h Infermi Hospital   (Italy)

ⁱ UNIVERSITY OF MESSINA   (Italy)

^j Hospital of Reggio Calabria   (Italy)

^k G GASLINI INSTITUTE   (Italy)

more..

Author keywords

Epilepsy; FMTLE; Genetics; Hippocampal sclerosis; Linkage; Temporal lobe epilepsy

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PREGABALIN; TOPIRAMATE; VIGABATRIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 12Q; CHROMOSOME 18Q; CHROMOSOME 1Q; CHROMOSOME 4Q; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; FEBRILE CONVULSION; FEMALE; GENE LOCUS; GENE MUTATION; GENOTYPE; HIPPOCAMPUS; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROGNOSIS; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, TEMPORAL LOBE; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; INHERITANCE PATTERNS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SENSATION DISORDERS; TEMPORAL LOBE;

EID: 38549165366     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-007-0653-1     Document Type: Article

References (21)

1. Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796-803
2. Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC (2002) Mutations in LGI1 cause autosomal- dominant partial epilepsy with auditory features. Nat Genet 30:335-341
3. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan 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, Marti-Masso JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Perez-Tur J, Lopez de Munain A (2002) Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 11:1119-1128
4. Berkovic SF, Howell A, Hopper JL (1994) Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. In: Wolf P (ed) Epileptic seizures and syndromes. London: John Libbey and Company Ltd, pp 257-263
5. Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL (1996) Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 40:227-235
6. Gambardella A, Messina D, Le Piane E, Oliveri RL, Annesi G, Zappia M, Andermann E, Quattrone A, Aguglia U (2000) Familial temporal lobe epilepsy Autosomal dominant inheritance in a large pedigree from Southern Italy. Epilepsy Res 38:127-132
7. Regesta G, Tanganelli P (2002) Temporal lobe epilepsy of adult age of possible idiopathic nature. Seizure 11:131-135
8. Ward N, Evanson J, Cockerell OC (2002) Idiopathic familial temporal lobe epilepsy with febrile convulsions. Seizure 11:16-19
9. Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B (2007) Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 68:2107-2112
10. Cendes F, Lopes-Cendes I, Andermann E, Andermann F (1998) Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 50:554-557
11. Kobayashi E, D'Agostino MD, Lopes-Cendes I, Berkovic SF, Li ML, Andermann E, Andermann F, Cendes F (2003) Hippocampal atrophy and T2 weighted signal changes in familial mesial temporal lobe epilepsy. Neurology 60:405-409
12. Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, Prud'homme JF, Baulac M, Brice A, LeGuern E (2001) Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 49:786-792
13. Claes L, Audenaert D, Deprez L, Van Paesschen W, Depondt C, Goossens D, Del-Favero J, Van Broeckhoven C, De Jonghe P (2004) Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 41:710-714
14. Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, Wilms G (2002) Familial temporal lobe epilepsy with febrile seizures. Neurology 58:1429-1433
15. Choi H, Winawer MR, Kalachikov S, Pedley TA, Hauser WA, Ottman R (2006) Classification of partial seizure symptoms in genetic studies of the epilepsies. Neurology 66:1648-1653
16. Kobayashi E, Lopes-Cendes I, Guerreiro CA, Sousa SC, Guerreiro MM, Cendes F (2001) Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy. Neurology 56:166-172
17. Kobayashi E, Li LM, Lopes-Cendes I, Cendes F (2002) Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy. Arch Neurol 59:1891-1894
18. Alessio A, Damasceno BP, Camargo CH, Kobayashi E, Guerreiro CA, Cendes F (2004) Differences in memory performance and other clinical characteristics in patients with mesial temporal lobe epilepsy with and without hippocampal atrophy. Epilepsy Behav 5:22-27
19. Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC (2004) LGI1 mutations in temporal lobe epilepsies. Neurology 62:1115-1119
20. Winawer M, Ottman R, Rabinowitz D (2002) Concordance of disease form in kindreds ascertained through affected individuals. Stat Med 21:1887-1897
21. Gurnett CA, Trevathan E (2006) Defining the phenotype to discover the genotype. Neurology 66:1622-1623