Epileptic Disorders


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
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  • [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.
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  • [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
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