Epilepsies with single gene inheritance

Brain and Development

Volumn 19, Issue 1, 1997, Pages 13-18

  Berkovic, Samuel F ^a,b   Scheffer, Ingrid E ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Epilepsy; Genetics; Seizure

Indexed keywords

NICOTINIC RECEPTOR; RECEPTOR SUBUNIT;

AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; BRAIN DYSFUNCTION; CHROMOSOME 10Q; CHROMOSOME 20Q; CHROMOSOME 8Q; DYSPRAXIA; EPILEPSY; EPILEPTOGENESIS; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENETIC COUNSELING; GENETIC LINKAGE; HUMAN; INHERITANCE; MOLECULAR GENETICS; REVIEW; TEMPORAL LOBE EPILEPSY;

EID: 0031050270     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(96)00060-5     Document Type: Review

References (63)

1. Hauser WA, Andersen VE. Genetics of epilepsy. In: Pedley TA, Meldrum BS, eds. Recent Advances in Epilepsy 3. Edinburgh: Churchilll Livingstone, 1986; 21-36.
2. Andermann E. Multifactorial inheritance of generalized and focal epilepsy. In: Anderson VE, Hauser WA, Penry JK, Sing CF, eds. Genetic Basis of the Epilepsies. New York: Raven Press, 1982: 355-374.
3. McKusick VA. Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: Centre for Medical Genetics, John Hopkins School of Medicine, and Bethesda: National Centre for Biotechnology Information, National Library of Medicine, 1996.
4. The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315.
5. Janssen B, Sampson J, Van der Est M et al. Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families. Hum. Genet. 1994; 94; 437-440.
6. Marchuk DA, Gallione CJ, Morrison LA et al. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics 1995; 28: 311-314.
7. Koide R, Ikeuchi T, Onodera O et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 1994; 6: 9-13.
8. Nagafuchi S, Yanagisawa H, Sato K et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 1994; 6: 14-18.
9. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-983.
10. Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology 1992; 42: 1375-1388.
11. Reiner O, Carrozzo R, Shen Y et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 1993; 364: 717-721.
12. Brunelli S, Faiella A, Capra V et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat. Genet. 1996; 12: 94-96.
13. Tahvanainen E, Ranta S, Hirvasniemi A et al. The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. Natl. Acad. Sci. USA 1994; 91: 7267-7270.
14. Yu S, Kremer E, Pritchard M et al. The fragile X genotype is characterized by an unstable region of DNA. Science 1991; 252: 1179-1181.
15. Eksioglu YZ, Scheffer IE, Cardenas P et al. Periventricular heterotopias: an X-linked dominant epilepsy locus causing aberrant cortical development. Neuron 1996; 16: 77-87.
16. Pinard J-M, Motte J, Chiron C, Brian R, Andermann E, Dulac O. Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. J. Neurol. Neurosurg. Psychiatry 1994; 57: 914-920.
17. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993; 34 (Suppl. 3): S19-S30.
18. Pennacchio LA, Lehesjoki AE, Stone NE et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731-1734.
19. Greenberg DA, Delgado-Escueta AV, Widelitz H et al. Juvenile myoclonic epilepsy may be linked to the Bf and HLA loci on human chromosome 6. Am. J. Med. Genet. 1988; 31: 185-192.
20. Sander T, Hildmann T, Janz D et al. The phenotypic spectrum related to the human epilepsy susceptibility gene 'EJM1'. Ann. Neurol. 1995; 38: 210-217.
21. Liu AW, Delgado-Escueto AV, Serratosa JM et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am. J. Hum. Genet. 1995; 57: 368-381.
22. Whitehouse WP, Rees M, Curtis D et al. Linkage analysis of idiopathic generalised epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence of an epilepsy locus in the HLA region. Am. J. Hum. Genet. 1993; 53: 652-662.
23. Plouin P. Benign familial neonatal convulsions. In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, eds. Idiopathic Generalized Epilepsies: Clinical, Experimental and Genetic Aspects. London: John Libbey, 1994: 39-44.
24. Leppert M, Anderson VE, Quattlebaum TG et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337: 647-648.
25. Malafosse A, Leboyer M, Dulac O et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum. Genet. 1992; 89: 54-58.
26. Leppert M, McMahon WM, Quattlebaum TG et al. Searching for human epilepsy genes: a progress report. Brain Pathol. 1993; 3: 357-369.
27. Ronen GM, Rosales TO, Connolly Y, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993; 43: 1355-1360.
28. Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch. Neurol. 1994; 51: 1125-1128.
29. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am. J. Hum. Genet. 1993; 53: 670-676.
30. Steinlein O, Schuster V, Fischer C, Haussler M. Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. Hum. Genet. 1995; 95: 411-415.
31. Fukuyama Y. Borderland of epilepsy, with special references to febrile convulsions and so-called infantile convulsions (in Japanese). Seishin Igaku (Tokyo) 1963; 5; 211-223.
32. Watanabe K, Yamamoto N, Negoro T, Takahashi I, Aso K, Maehara M. Benign infantile epilepsy with complex partial seizures. J. Clin. Neurophysiol. 1990; 7: 409-416.
33. Fukuyama Y. A short reflection on Japanese contributions to pediatric epileptology - thanks in return. Brain Dev. 1995; 17 (Suppl.): 11-16.
34. Sakauchi M, Oguni H, Yanagaki S, Hayashi K, Osawa M, Fukuyama Y. Familial aggregation of seizure disorders in families with benign infantile convulsions. Epilepsia 1995; 36 (Suppl. 3): S4-S5.
35. Vigevano F, Fusco L, Capua M et al. Benign infantile familial convulsions. Eur. J. Pediatr. 1992; 151: 608-612.
36. Vigevano F et al. Benign infantile familial convulsions. In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, eds. Idiopathic Generalized Epilepsies: Clinical, Experimental and Genetic Aspects. London: John Libbey, 1994: 45-49.
37. Lee WL, Low PS, Rajan U. Benign familial infantile epilepsy. J. Pediatr. 1993; 123: 588-590.
38. Malafosse A, Beck C, Bellet H et al. Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. Ann. Neurol. 1994; 35: 479-482.
39. Bray PF, Wiser WC. Evidence for a genetic etiology of temporalcentral abnormalities in focal epilepsy. N. Engl. J. Med. 1964; 271: 926-933.
40. Heijbel J, Blom S, Rasmuson M. Benign epilepsy of children with centro-temporal EEG foci: a genetic study. Epilepsia 1975; 16: 285-293.
41. Doose H, Baier WK. Benign partial epilepsy and related conditions: multifactorial pathogenesis with hereditary impairment of brain maturation. Eur. J. Pediatr. 1989; 149: 152-158.
42. Choy YS, Tan CT. Study of genetic aspects of benign rolandic epilepsy: EEG of siblings and pedigree analysis. Epilepsia 1995; 36 (Suppl. 3): 27.
43. Kuzniecky R, Rosenblatt B. Benign occipital epilepsy: a family study. Epilepsia 1987; 28: 346-350.
44. Radhakrishnan K, Silbert P, Klass DW. Reading epilepsy: an appraisal of 20 patients diagnosed at the Mayo Clinic, Rochester, Minnesota, between 1949 and 1989, and delineation of the epileptic syndrome. Brain 1995; 118: 75-89.
45. Scheffer IE, Bhatia KP, Lopes-Cendes I et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994; 343: 515-517.
46. Scheffer IE, Bhatia KP, Lopes-Cendes I et al. Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder. Brain 1995; 118: 61-73.
47. Lopes-Cendes I, Phillips HA, Scheffer IE et al. Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the E1-1 mouse locus. Epilepsy Res. 1995; 22; 227-233.
48. Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat. Genet. 1995; 10: 117-118.
49. Steinlein OK, Mulley JC, Propping P et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is asso-ciated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 1995; 11: 201-203.
50. Berkovic SF, Phillips HA, Scheffer IE et al. Genetic heterogeneity in autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 1995; 36 (Suppl. 4): 147.
51. Scheffer IE, Hopkins IJ, Harvey AS, Berkovic SF. New autosomal dominant partial epilepsy syndrome. Pediatr. Neurol. 1994; 11: 95.
52. Scheffer IE, Phillips HA, Mulley J et al. Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 1995; 36 (Suppl. 3): S28.
53. Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann. Neurol. 1995; 38: 633-642.
54. Berkovic SF, Howell RA, Hopper JL. 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, 1994: 257-263.
55. Berkovic SF, McIntosh AM, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann. Neurol. 1996; 40: 227-235.
56. Ottman R, Risch N, Hauser WA et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat. Genet. 1995; 10: 56-60.
57. Lys mutation. Cell 1990; 61: 931-937.
58. Serratosa JM, Delgado-Escueta AV, Posada I et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum. Mol. Genet. 1995; 4: 1657-1664.
59. Savukoski M, Kestilä M, Williams R et al. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis. Am. J. Hum. Genet. 1994; 55: 695-701.
60. Lerner TJ, Boustany RMN, Anderson JW et al. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995; 6; 949-957.
61. Mueller OT, Henry WM, Haley LL, Byers MG, Eddy RL, Shows TB. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. Proc. Natl. Acad. Sci. USA 1986; 83: 1817-1821.
62. Harada F, Nishimura Y, Suzuki K et al. A patient with a combined deficiency of neuraminidase and 21-hydroxylase. Hum. Genet. 1987; 75: 91-92.
63. Rothchild CB, Akots G, Hayworth R et al. A genetic map of chromosome 20ql2-ql3.2. Am. J. Hum. Genet. 1993; 52: 110-123.