Channelopathies and juvenile myoclonic epilepsy
Patrick Cossette,
Patrick Cossette
Department of Medicine, Neurology Division, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada
Search for more papers by this authorPatrick Cossette,
Patrick Cossette
Department of Medicine, Neurology Division, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada
Search for more papers by this authorAddress correspondence to Patrick Cossette, MD, PhD, CHUM-Hôpital Notre-Dame, 1560 Sherbrooke est, Montréal, QC, Canada. E-mail: [email protected]
No abstract is available for this article.
References
- Annegers JF, Hauser WA, Anderson VE, Kurland LT. (1982) The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 32: 174–179.
- Baulac S, Huberfeld G, Gournifinkel-An I, Mitropoulou G, Beranger A, Prud’homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 28: 46–48.
- Berkovic SF, Andermann F, Andermann E, Gloor P. (1987) Concepts of absence epilepsies: discrete syndromes or biological continuum? Neurology 37: 993–1000.
- Berkovic SF, Howell RA, Hay DA, Hopper JL. (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43: 435–445.
- Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Rouleau GA. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31: 184–189.
- D’Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, Saint-Hilaire JM, Kwiecinski H, Andermann F, Pandolfo M. (2004) Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology 63: 1500–1502.
- Delgado-Escueta AV, Enrile-Bacsal F. (1984) Juvenile myoclonic epilepsy of Janz. Neurology 34: 285–294.
- Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13: 1315–1319.
- Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. (2004) Monogenic idiopathic epilepsies. Lancet Neurol 3: 209–218.
- Greenberg DA, Durner M, Keddache M, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Tomasini L, Zhou G, Klotz I, Dicker E. (2000) Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. Am J Hum Genet 66: 508–516.
- Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H. (2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76: 139–146.
- Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70: 530–536.
- Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33: 527–532.
- Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. (2009) Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 41(9): 1043.
- Herpin T. (1867) Des accès incomplets d’épilepsie. Baillières, Paris.
-
Janz DC,
Christian W. (1957) Impulsiv-Petit mal.
Dtsch Z Nervenheilkd
176: 348–386.
10.1007/BF00242439 Google Scholar
- Janz D., Durner M. (1997) Epilepsy: a comprehensive textbook. Lippincott-Raven, New York.
- Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK. (2002) A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 59: 1137–1141.
- Kang JQ, Macdonald RL. (2004) The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. J Neurosci 24: 8672–8677.
- Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. (2005) Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci 22: 10–20.
- Lundborg M. (1903) Die progressive myoklonus-epilepsie (unverrichts myoklonie). Almquist and Wiksell, Upsala.
- Macdonald RL, Gallagher MJ, Feng HJ, Kang J. (2004) GABA(A) receptor epilepsy mutations. Biochem Pharmacol 68: 1497–1506.
- Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A. (2006) A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol 59: 983–987.
- Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA. (2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 73: 261–270.
- Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E. (2000). Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain 123 (Pt 6): 1247–1262.
- Rabot L. (1899). De la myoclonie épileptique. Thèse , Paris.
- Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Tekeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K. (2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36: 842–849.
- Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV. (2008) Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 82: 1249–1261.
- Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. (2005) Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet 14: 2491–2500.
- Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffe IE, Berkovic SF. (2001) Mutant GABA(A) receptor gamma2-subnit in childhood absence epilepsy and febrile seizures. Nat Genet 28: 49–52.
- Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M. (1995) Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 4: 1201–1207.
