［1］Rho JM. Basic science behind the catastrophic epilepsies［J］. Epilepsia, 2004, 45（Suppl 5）:5-11.
［2］Frost JD Jr, Hrachovy RA. Pathogenesis of infantile spasms: a model based on developmental desynchronization［J］. J Clin Neurophysiol, 2005, 22(1):25-36.
［3］Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration［J］. Hum Mol Genet, 2003, 12 （1）:R89-R96.
［4］Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, et al. Increased LIS1 expression affects human and mouse brain development［J］. Nat Genet, 2009, 41(2):168-177.
［5］Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome［J］. Nat Genet, 2003, 34(3):274-285.
［6］Meyer G, Perez-Garcia CG, Gleeson JG. Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement［J］. Cereb Cortex, 2002, 12(12):1225-1236.
［7］Kato M. A new paradigm for West syndrome based on molecular and cell biology［J］. Epilepsy Res, 2006, 70 （Sl）1:S87-S95.
［8］Guerrini R. Genetic malformations of the cerebral cortex and epilepsy［J］. Epilepsia, 2005, 46 （S1）:32-37.
［9］Fleck MW, Hirotsune S, Gambello MJ, Phillips-Tansey E, Suares G, Mervis RF, et al. Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly［J］. J Neurosci, 2000, 20(7):2439-2450.
［10］Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis［J］. J Child Neurol, 2005, 20(4):313-318.
［11］Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex［J］. N Engl J Med, 2006, 355(13):1345-1356.
［12］Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, et al. Functional analysis of splicing mutations in exon 7 of NF1 gene［J］. BMC Med Genet, 2007, 8:4.
［13］Liu ZL, He B, Fang F, Tang CY, Zou LP. Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms［J］. Neuropediatrics, 2007, 38(6): 304-309.
［14 ］Irvine AD, McLean WH. The molecular genetics of the genodermatoses: progress to date and future directions［J］. Br J Dermatol, 2003, 148(1):1-13.
［15］Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. Channelopathies in idiopathic epilepsy［J］. Neurotherapeutics, 2007, 4(2):295-304.
［16］Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, et al. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms［J］. Neurology, 2003, 61(6):765-769.
［17］Hunter J, Maljevic S, Shankar A, Siegel A, Weissman B, Holt P, et al. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy［J］. Neurobiol Dis, 2006, 24(1):194-201.
［18］Bahi-Buisson N, Eisermann M, Nivot S, Bellanne-Chantelot C, Dulac O, Bach N, et al. Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2［J］. J Child Neurol, 2007, 22(9):1147-1150.
［19 ］Voisey J, Carroll L, van Daal A. Melanocortins and their receptors and antagonists［J］. Curr Drug Targets, 2003, 4(7):586-597.
［20］Brunson KL, Khan N, Eghbal-Ahmadi M, Baram TZ. Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression［J］. Ann Neurol, 2001, 49(3):304-312.
［21］Liu ZL, He B, Fang F, Tang CY, Zou LP. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms［J］. Chin Med J (Engl), 2008, 121(17):1627-1632.
［22］Akabori S, Takano T, Fujito H, Takeuchi Y. West syndrome in a patient with balanced translocation t(X;18)(p22;p11.2) ［J］. Pediatr Neurol, 2007, 37(1):64-66.
［23］Kato M. A new paradigm for West syndrome based on molecular and cell biology［J］. Epilepsy Res, 2006, 70(Suppl 1):S87-S95.
［24］Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX［J］. Brain Dev, 2002, 24(5):266-268.
［25］Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation［J］. Am J Hum Genet, 2003, 72(6):1401-1411.
［26］Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy［J］. Nat Genet, 2002, 30(4):441-445.
