Genes and mutations in human idiopathic epilepsy

Brain and Development

Volumn 26, Issue 4, 2004, Pages 213-218

  Steinlein, Ortrud K ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Channelopathies; Epilepsy; Mutation; Seizures

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHANNEL GATING; DISEASE CLASSIFICATION; EPILEPSY; EPILEPTOGENESIS; FAMILIAL JUVENILE MYOCLONIC EPILEPSY; FAMILIAL LATERAL TEMPORAL LOBE EPILEPSY; FAMILIAL NOCTURNAL FRONTAL LOBE EPILEPSY; FEBRILE CONVULSION; FRONTAL LOBE EPILEPSY; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GENETIC CODE; GENETIC PREDISPOSITION; HUMAN; IDIOPATHIC DISEASE; INHERITANCE; SEIZURE SUSCEPTIBILITY; SEVERE MYOCLONIC EPILEPSY OF INFANCY;

EID: 2342639017     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00149-9     Document Type: Review

References (58)

1. Scheffer I.E., Bhatia K.P., Lopes-Cendes I., Fish D.R., Marsden C.D., Andermann E., et al. Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain. 118:1995;61-73
2. Oldani A., Zucconi M., Ferini-Strambi L., Bizzozero D., Smirne S. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia. 37:1996;964-976
3. Hayman M., Scheffer I.E., Chinvarun Y., Berlangieri S.U., Berkovic S.F. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology. 49:1997;969-975
4. Steinlein O., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 11:1995;201-203
5. Steinlein O.K., Stoodt J., Mulley J., Berkovic S., Scheffer I.E., Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia. 41:2000;529-535
6. Saenz A., Galan J., Caloustian C., Lorenzo F., Marquez C., Rodriguez N., et al. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol. 56:1999;1004-1009
7. Matsushima N., Hirose S., Iwata H., Fukuma G., Yonetani M., Nagayama C., et al. Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. Epilepsy Res. 48:2002;181-186
8. Steinlein O., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S.F., et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet. 6:1997;943-947
9. Hirose S., Iwata H., Akiyoshi H., Kobayashi K., Ito M., Wada K., et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 53:1999;1749-1753
10. Phillips H.A., Marini C., Scheffer I.E., Sutherland G.R., Mulley J.C., Berkovic S.F. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol. 48:2000;264-267
11. De Fusco M.D., Becchetti A., Patrignani A., Annesi G., Gambardella A., Quattrone A., et al. The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 26:2000;275-276
12. Phillips H.A., Favre I., Kirkpatrick M., Zuberi S.M., Goudie D., Heron S.E., et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 68:2001;225-231
13. Weiland S., Witzemann V., Villarroel A., Propping P., Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett. 398:1996;91-96
14. Bertrand D., Picard F., Le Hellard S., Weiland S., Favre I., Phillips H., et al. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia. 43:(Suppl. 5):2002;112-122
15. Magnusson A., Stordal E., Brodtkorb E., Steinlein O. Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy. Psychiat Genet. 13:2003;91-95
16. Picard F., Bertrand S., Steinlein O.K., Bertrand D. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. Epilepsia. 40:1999;1198-1209
17. Leniger T., Kananura C., Hufnagel A., Bertrand S., Bertrand D., Steinlein O.K. A new CHRNA4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia. 44:2003;981-985
18. Ronen G.M., Rosales T.O., Connolly M., Anderson V.E., Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 43:1993;1355-1360
19. Wakai S., Kamasaki H., Itoh N., Sueoka H., Kawamoto Y., Hayasaka H., et al. Classification of familial neonatal convulsions. Lancet. 344:1994;1376
20. Dedek K., Fusco L., Teloy N., Steinlein O.K. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 54:2003;21-27
21. Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., et al. A potassium channel mutation in neonatal human epilepsy. Science. 279:1998;403-406
22. Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 18:1998;25-29
23. Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 18:1998;53-55
24. Hirose S., Zenri F., Akiyoshi H., Fukuma G., Iwata H., Inoue T., et al. A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol. 47:2000;822-826
25. + channel. Proc Natl Acad Sci USA. 98:2001;12272-12277
26. +? Epilepsia. 42:2001;837-844
27. +-channel beta1 subunit gene SCN1B. Nat Genet. 19:1998;366-370
28. Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 68:2001;859-865
29. +2. Nat Genet. 24:2000;343-345
30. Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., et al. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 57:2001;703-705
31. + channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA. 98:2001;6384-6389
32. Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 68:2001;1327-1332
33. Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 126:2003;531-546
34. Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.F., et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 28:2001;46-48
35. Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 70:2002;530-536
36. Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 28:2001;49-52
37. Kananura C., Haug K., Sander T., Runge U., Gu W., Hallmann K., et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol. 59:2002;1137-1141
38. Marini C., Harkin L.A., Wallace R.H., Mulley J.C., Scheffer I.E., Berkovic S.F. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain. 126:2003;230-240
39. 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. 30:2002;335-341
40. Gu W., Brodtkorb E., Steinlein O.K. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol. 52:2002;364-367
41. Pizzuti A., Flex E., Di Bonaventura C., Dottorini T., Egeo G., Manfredi M., et al. Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. Ann Neurol. 53:2003;396-399
42. Fertig E., Lincoln A., Martinuzzi A., Mattson R.H., Hisama F.M. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology. 60:2003;1687-1690
43. Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Saenz A., Poza J.J., Galan J., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet. 11:2002;1119-1128
44. Staub E., Perez-Tur J., Siebert R., Nobile C., Moschonas N.K., Deloukas P., et al. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem Sci. 27:2002;441-444
45. Gu W., Wevers A., Schroder H., Grzeschik K.H., Derst C., Brodtkorb E., et al. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. FEBS Lett. 519:2002;71-76
46. Heron S.E., Crossland K.M., Andermann E., Phillips H.A., Hall A.J., Bleasel A., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 360:2002;851-852
47. Wallace R.H., Berkovic S.F., Howell R.A., Sutherland G.R., Mulley J.C. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet. 33:1996;308-312
48. Johnson E.W., Dubovsky J., Rich S.S., O'Donovan C.A., Orr H.T., Anderson V.E., et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet. 7:1998;63-67
49. Peiffer A., Thompson J., Charlier C., Otterud B., Varvil T., Pappas C., et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol. 46:1999;671-678
50. Nakayama J., Fu Y.H., Clark A.M., Nakahara S., Hamano K., Iwasaki N., et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 52:2002;654-657
51. Skradski S.L., Clark A.M., Jiang H., White H.S., Fu Y.H., Ptacek L.J. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 31:2001;537-544
52. Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 31:2002;184-189
53. Haug K., Warnstedt M., Alekov A.K., Sander T., Ramirez A., Poser B., et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 33:2003;527-532
54. Durner M., Keddache M.A., Tomasini L., Shinnar S., Resor S.R., Cohen J., et al. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol. 49:2001;328-335
55. Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet. 9:2000;1465-1472
56. Zara F., Bianchi A., Avanzini G., Di Donato S., Castellotti B., Patel P.I., et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet. 4:1995;1201-1207
57. Whitehouse W.P., Rees M., Curtis D., Sundqvist A., Parker K., Chung E., et al. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. Am J Hum Genet. 53:1993;652-662
58. Durner M., Sander T., Greenberg D.A., Johnson K., Beck-Mannagetta G., Janz D. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology. 41:1991;1651-1655