Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
genetic conditions
References
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM,Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in anautosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002Jun;31(2):184-9.
Ding L, Feng HJ, Macdonald RL, Botzolakis EJ, Hu N, Gallagher MJ. GABA(A)receptor alpha1 subunit mutation A322D associated with autosomal dominantjuvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. J Biol Chem. 2010 Aug 20;285(34):26390-405. doi:10.1074/jbc.M110.142299.
Gallagher MJ, Ding L, Maheshwari A, Macdonald RL. The GABAA receptor alpha1subunit epilepsy mutation A322D inhibits transmembrane helix formation and causesproteasomal degradation. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004.
Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunitcausing juvenile myoclonic epilepsy. Eur J Neurosci. 2005 Jul;22(1):10-20.
Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M,Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, InazawaJ, 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.Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004Aug;36(8):842-9.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?