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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation Volume 16, numéro 2, June 2014

  • [Carranza Rojo et al., 2011] Carranza Rojo D., Hamiwka L., McMahon J.M. De novo mutations in migrating partial seizures of infancy. Neurology. 2011;77:380-383. SCN1A
  • [Deprez et al., 2010] Deprez L., Weckhuysen S., Holmgren P. Clinical spectrum of early-onset epileptic encephalopathies associated with mutations. Neurology. 2010;75:1159-1165. STXBP1
  • [Guerrini and Parrini, 2012] Guerrini R., Parrini E. Epilepsy in Rett syndrome, and - and -gene-related encephalopathies. Epilepsia. 2012;53:2067-2078. CDKL5FOXG1
  • [Guerrini et al., 2007] Guerrini R., Moro F., Kato M. Expansion of the first PolyA tract of causes infantile spasms and status dystonicus. Neurology. 2007;69:427-433. ARX
  • [Harkin et al., 2007] Harkin L.A., McMahon J.M., Iona X. The spectrum of -related infantile epileptic encephalopathies. Brain. 2007;130:843-852. SCN1A
  • [Hirose et al., 2013] Hirose S., Scheffer I.E., Marini C. testing for epilepsy: application in clinical practice. Epilepsia. 2013;54:946-952. SCN1A
  • [Kanazawa et al., 2010] Kanazawa K., Kumada S., Kato M., Saitsu H., Kurihara E., Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord. 2010;25:2265-2267.
  • [Kwong et al., 2012] Kwong A.K.Y., Fung C.W., Chan S.Y., Wong V.C.N. Identification of and mutations in Chinese children with Dravet syndrome. PLoS One. 2012;7:e41802. SCN1APCDH19
  • [McTague et al., 2013] McTague A., Appleton R., Avula S. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578-1591.
  • [Mignot et al., 2011] Mignot C., Moutard M.L., Trouillard O. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia. 2011;52:1820-1827.
  • [Nakamura et al., 2013] Nakamura K., Kodera H., Akita T. De Novo mutations in , encoding a Gα subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013;93:496-505. GNAO1o
  • [Ohtsuka et al., 2003] Ohtsuka Y., Ohmori I., Ogino T., Ouchida M., Shimizu K., Oka E. Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. Brain Dev. 2003;25:401-405.