loci associated with pharmacoresponse to AEDs. Aim 2: Determine genetic influence in rare, severe epilepsy We will determine the role of de novo copy number polymorphisms (CNPs) in IS, LGS, and PMG/PVNH. We will evaluate the role of inherited CNPs in IS, LGS, and PMG/PVNH. See also Epilepsy in Females with Mental Retardation (EFMR) References Winawer, M.R., Phenotype definition in epilepsy. Epilepsy Behav, 2006. Andermann, F., E. Kobayashi, and E. Andermann, Genetic focal epilepsies: state of the art and paths to the future. Epilepsia, 2005. 46 Suppl 10: p. 61-7. Gardiner, M., Genetics of idiopathic generalized epilepsies. Epilepsia, 2005. 46 Suppl 9: p. 15-20. Crino, P.B., H. Miyata, and H.V. Vinters, Neurodevelopmental disorders as a cause of seizures: neuropathologic, genetic, and mechanistic considerations. Brain Pathol, 2002. 12(2): p. 212-33. Szoeke, C.E., et al., Update on pharmacogenetics in epilepsy: a brief review. Lancet Neurol, 2006. 5(2): p. 189-96. Choi H, Winawer MR, Kalachikov S, Pedley TA, Hauser WA, Ottman R. Classification of partial seizure symptoms in genetic studies of the epilepsies. Neurology. 2006 Jun 13;66(11):1648-53. Freimer N, Sabatti C. The human phenome project. Nat Genet. 2003 May;34(1):15-21 External links Official web site Epilepsy