Familial mesial temporal lobe epilepsy: A benign epilepsy syndrome showing complex inheritance

Brain

Volumn 133, Issue 11, 2010, Pages 3221-3231

  Crompton, Douglas E ^a,b,c   Scheffer, Ingrid E ^a   Taylor, Isabella ^d   Cook, Mark J ^a   McKelvie, Penelope A ^e   Vears, Danya F ^a   Lawrence, Kate M ^a   McMahon, Jacinta M ^a   Grinton, Bronwyn E ^a   McIntosh, Anne M ^a   Berkovic, Samuel F ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^d SIR CHARLES GAIRDNER HOSPITAL   (United States)

^e ST VINCENT S HOSPITAL   (Australia)

Author keywords

epileptology; family study; genetics; temporal lobe epilepsy

Indexed keywords

ANTICONVULSIVE AGENT;

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; CHILD; DOMINANT INHERITANCE; EPILEPSY; FAMILIAL DISEASE; FAMILY; FEBRILE CONVULSION; FEMALE; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOME; HIPPOCAMPUS; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SCLEROSIS; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASES IN TWINS; EPILEPSY, COMPLEX PARTIAL; EPILEPSY, TEMPORAL LOBE; FEMALE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; PEDIGREE; SYNDROME; YOUNG ADULT;

EID: 78049485650     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq251     Document Type: Article

References (50)

1. Aguglia U, Gambardella A, LePiane E, Messina D, Olivieri RL, Russo C, et al. Mild, non-lesional temporal lobe epilepsy. Can J Neurol Sci 1998; 25: 282-6.
2. Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, et al. Familial temporal lobe epilepsy as a presenting feature of chor- eoacanthocytosis. Epilepsia 2005; 46: 1256-63.
3. Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001; 49: 786-792.
4. Beck-Mannagetta G, Janz D. Syndrome-related genetics in generalized epilepsy. Epilepsy Res Suppl 1991; 4: 105-11.
5. Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007; 8: 639-46.
6. Berkovic SF, Hay DA, Hopper JL. Epilepsies in twins. In: Wolf P, editor. Epileptic seizures and syndromes. London: John Libby; 1994. p. 157-64.
7. Berkovic SF, Howell RA, Hay DA, Hopper JL. Twin birth is not a risk factor for seizures. Neurology 1993; 43: 2515-9.
8. Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998; 43: 435-45.
9. Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, et al. LGI1 mutations in temporal lobe epilepsies. Neurology 2004a; 62: 1115-9.
10. Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Familial temporal lobe epilepsy: A common disorder identified in twins. Ann Neurol 1996; 40: 227-35.
11. Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Diaz-Otero F, et al. Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia 2004b; 45: 1054-60.
12. Cendes F, Lopes-Cendes I, Andermann E, Andermann F. Familial temporal lobe epilepsy: A clinically heterogeneous syndrome. Neurology 1998; 50: 554-7.
13. Chabrol E, Gourfinkel-An I, Scheffer IE, Picard F, Couarch P, Berkovic SF, et al. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res 2007; 76: 41-8.
14. Claes L, Audenaert D, Deprez L, Van Paesschen W, Depondt C, Goossens D, et al. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004; 41: 710-4.
15. Conover WJ. Practical nonparametric statistics. New York: John Wiley & Sons; 1971. p. 97-104.
16. Cook MJ, Fish DR, Shorvon SD, Straughan K, Stevens JM. Hippocampal volumetric and morphometric studies in frontal and temporal lobe epilepsy. Brain 1992; 115: 1001-15.
17. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myo-clonic epilepsy. Nat Genet 2002; 31: 184-9.
18. Currie S, Heathfield KW, Henson RA, Scott DF. Clinical course and prognosis of temporal lobe epilepsy. A survey of 666 patients. Brain 1971; 94: 173-90.
19. Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, et al. Familial temporal lobe epilepsy with febrile seizures. Neurology 2002; 58: 1429-1433.
20. Gambardella A, Messina D, Le Piane E, Oliveri RL, Annesi G, Zappia M, et al. Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy. Epilepsy Res 2000; 38: 127-32.
21. Gambardella A, Labate A, Giallonardo A, Aguglia U. Familial mesial temporal lobe epilepsies: clinical and genetic features. Epilepsia 2009; 50 (Suppl. 5): 55-7.
22. Hauser WA, Kurland LT. The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967. Epilepsia 1975; 16: 1-66.
23. Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, et al. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 2007; 68: 2107-12.
24. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-2.
25. Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud'homme JF, Nabbout R, et al. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia 2006; 47: 1682-90.
26. Jack CR Jr, Theodore WH, Cook M, McCarthy G. MRI-based hippocam-pal volumetrics: data acquisition, normal ranges, and optimal protocol. Magn Reson Imaging 1995; 13: 1057-64.
27. Jackson GD, Berkovic SF, Duncan JS, Connelly A. Optimizing the diagnosis of hippocampal sclerosis using MR imaging. AJNR Am J Neuroradiol 1993; 14: 753-62.
28. Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002; 30: 335-41.
29. King MA, Newton MR, Jackson GD, Fitt GJ, Mitchell LA, Silvapulle MJ, et al. Epileptology of the first-seizure presentation: A clinical, electro-encephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet 1998; 352: 1007-11.
30. Kobayashi E, Lopes-Cendes I, Guerreiro CA, Sousa SC, Guerreiro MM, Cendes F. Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy. Neurology 2001; 56: 166-72.
31. Labate A, Ventura P, Gambardella A, Le Piane E, Colosimo E, Leggio U, et al. MRI evidence of mesial temporal sclerosis in sporadic "benign" temporal lobe epilepsy. Neurology 2006; 66: 562-5.
32. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan J, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002; 11: 1119-28.
33. Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF. A neurologist's guide to genome-wide association studies. Neurology 2009; 72: 558-65.
34. Nelson KB, Ellenberg JH. Prognosis in children with febrile seizures. Pediatrics 1978; 61: 720-7.
35. Ottman R. Analysis of genetically complex epilepsies. Epilepsia 2005; 46 (Suppl. 10): 7-14.
36. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995; 10: 56-60.
37. Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004; 62: 1120-6.
38. Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, et al. Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain 2000; 123: 1247-62.
39. Poza JJ, Saenz A, Martinez-Gil A, Cheron N, Cobo AM, Urtasun M, et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 1999; 45: 182-8.
40. Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 1992; 33: 1065-71.
41. Reutens DC, Stevens JM, Kingsley D, Kendall B, Moseley I, Cook MJ, et al. Reliability of visual inspection for detection of volumetric hippo-campal asymmetry. Neuroradiology 1996; 38: 221-5.
42. Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennal JA, Wallace RH, et al. Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998; 44: 890-9.
43. Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007; 130: 100-9.
44. Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, et al. Familial mesial temporal lobe epilepsy (FMTLE): A clinical and genetic study of 15 Italian families. J Neurol 2008; 255: 16-23.
45. Thomas R, Favell K, Morante-Redolat J, Pool M, Kent C, Wright M, et al. LGI1 is a Nogo receptor 1 ligand that antagonizes myelin-based growth inhibition. J Neurosci 2010; 30: 6607-12.
46. Vadlamudi L, Scheffer IE, Berkovic SF. Genetics of temporal lobe epilepsy. J Neurol Neurosurg Psychiatry 2003; 74: 1359-61.
47. Verity CM, Butler NR, Golding J. Febrile convulsions in a national cohort followed up from birth. I-Prevalence and recurrence in the first five years of life. Br Med J (Clin Res Ed) 1985; 290: 1307-10.
48. Xiong L, Labuda M, Li D-S, Hudson TJ, Desbiens R, Patry G, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999; 65: 1698-1710.
49. Zarrelli MM, Beghi E, Rocca WA, Hauser WA. Incidence of epileptic syndromes in Rochester, Minnesota: 1980-1984. Epilepsia 1999; 40: 1708-14.
50. Zhou YD, Lee S, Jin Z, Wright M, Smith SE, Anderson MP. Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. Nat Med 2009; 15: 1208-14.