Genetics of idiopathic epilepsies

Epilepsia

Volumn 46, Issue SUPPL. 1, 2005, Pages 38-43

  Hirose, Shinichi ^a   Mitsudome, Akihisa ^a   Okada, Motohiro ^b   Kaneko, Sunao ^b  

^a FUKUOKA UNIVERSITY   (Japan)

^b HIROSAKI UNIVERSITY   (Japan)

Author keywords

Autosomal dominant nocturnal frontal lobe epilepsy; Benign familial neonatal convulsions; Channelopathy epilepsy; Febrile convulsions; Febrile seizures; Generalized epilepsy with febrile seizures plus

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CALCIUM CHANNEL; NICOTINIC RECEPTOR; POTASSIUM; POTASSIUM CHANNEL; SODIUM; SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL;

AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CONFERENCE PAPER; EPILEPTOGENESIS; FEBRILE CONVULSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE IDENTIFICATION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NOCTURNAL SEIZURE; PRIORITY JOURNAL;

ABNORMALITIES; CODON, NONSENSE; EPILEPSIES, PARTIAL; EPILEPSY; EPILEPSY, BENIGN NEONATAL; EPILEPSY, FRONTAL LOBE; GENES, DOMINANT; HUMANS; ION CHANNELS; MUTATION; PEDIGREE; PHENOTYPE; SEIZURES, FEBRILE; SYNDROME;

EID: 14944384270     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0013-9580.2005.461011.x     Document Type: Conference Paper

References (53)

1. Hirose S, Okada M, Yamakawa K, et al. Genetics abnormalities underlying familial epilepsy syndromes. Brain Dev 2002;24:211-22.
2. Hirose S, Okada M, Kaneko S, et al. Molecular genetics of human familial epilepsy syndrome. Epilepsia 2002;43(suppl 6).
3. Hirose S, Okada M, Kaneko S, et al. Are some idiopathic epilepsies disorders of ion channels? A working hypothesis. Epilepsy Res 2000;41:191-204.
4. Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:943-7.
5. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
6. Hirose S, Iwata H, Akiyoshi H, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 1999;53:1749-53.
7. Ito M, Kobayashi K, Fujii T, et al. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia 2000;41:52-8.
8. Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J Hum Genet 2001;68:225-31.
9. De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
10. Matsushima N, Hirose S, Iwata H, et al. Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. Epilepsy Res 2002;48:181-6.
11. Steinlein OK. New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies. Clin Genet 1998;54:169-75.
12. Phillips HA, Marini C, Scheffer IE, et al. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48:264-7.
13. Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-6.
14. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
15. Biervert C, Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999;104:234-40.
16. + current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann Neurol 1999;46:305-12.
17. Steinlein OK, Stoodt J, Biervert C, et al. The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy. Neuroreport 1999;10:1163-6.
18. Lee WL, Biervert C, Hallmann K, et al. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family. Neuropediatrics 2000;31:9-12.
19. Miraglia del Giudice E, Coppola G, Scuccimarra G, et al. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur J Hum Genet 2000;8:994-7.
20. Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
21. Hirose S, Zenri F, Akiyoshi H, et al. A novel mutation of KCNQ3 (c.925T>C) in a Japanese family with benign familial neonatal convulsions (BFNC2). Ann Neurol 2000;47:822-6.
22. Robbins J, Trouslard J, Marsh SJ, et al. Kinetic and pharmacological properties of the M-current in rodent neuroblastoma x glioma hybrid cells. J Physiol 1992;451:159-85.
23. Okada M, Zhu G, Hirose S, et al. Age-dependent modulation of hippocampal excitability by KCNQ-channels. Epilepsy Res 2003;53:81-94.
24. Okada M, Wada K, Kamata A, et al. Impaired M-current and neuronal excitability. Epilepsia 2002;43(suppl 9):36-8.
25. Singh R, Scheffer IE, Crossland K, et al. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999;45:75-81.
26. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120(Pt 3):479-90.
27. +)-channel al subunit gene, SCN1A. Epilepsy Res 2002;48:15-23.
28. Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-65.
29. +-channel β1 subunit gene SCN1B. Nat Genet 1998;19:366-70.
30. v1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001;57:703-5.
31. Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68:866-73.
32. v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 2001;98:6384-9.
33. Lossin C, Wang DW, Rhodes TH, et al Molecular basis of an inherited epilepsy. Neuron 2002;34:877-84.
34. Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2.
35. A receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat Genet 2001;28:46-8.
36. A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
37. A receptor subunit mutation [γ2(R43Q)] found in human epilepsy. Proc Natl Acad Sci U S A 2002;99:15170-5.
38. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32.
39. Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
40. Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58:1122-4.
41. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel a subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;126(Pt 3):531-46.
42. A-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-6.
43. Hirose S, Mohney RP, Okada M, et al. The genetics of febrile seizures and related epilepsy syndrome. Brain Dev 2003;25:304-12.
44. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-41.
45. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002;11:1119-28.
46. Scheel H, Tomiuk S, Hofmann K. A common protein interaction domain links two recently identified epilepsy genes. Hum Mol Genet 2002;11:1757-62.
47. Staub E, Perez-Tur J, Siebert R, et al. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem Sci 2002;27:441-4.
48. Nakayama J, Fu YH, Clark AM, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol 2002;52:654-7.
49. Zuberi SM, Eunson LH, Spauschus A, et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 1999;122(Pt 5):817-25.
50. Escayg A, Jones JM, Kearney JA, et al. Calcium channel β4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Genomics 1998;50:14-22.
51. Jouvenceau A, Eunson LH, Spauschus A, et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001;358:801-7.
52. Cossette P, Liu L, Brisebois K, et al. Mutation of CABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31:184-9.
53. Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33:527-32.