JLE

Epileptic Disorders

MENU

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study Volume 20, issue 5, October 2018

  • [Chen et al., 2017] Chen W., Shieh C., Swanger S.A. mutation associated with intellectual disability alters NMDA receptor trafficking and function. J Hum Genet. 2017;62:589-597. GRIN1
  • [Lee et al., 2002] Lee F.J., Xue S., Pei L. Dual regulation of NMDA receptor functions by direct protein-protein interactions with the dopamine D1 receptor. Cell. 2002;111:219-230.
  • [Lemke et al., 2016] Lemke J.R., Geider K., Helbig K.L. Delineating the phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy. Neurology. 2016;86:2171-2178. GRIN1
  • [Mencacci et al., 2016] Mencacci N.E., Kamsteeg E.J., Nakashima K. mutations in cause childhood-onset chorea with bilateral striatal lesions. Am J Hum Genet. 2016;98:763-771. De novoPDE10A
  • [Ohba et al., 2015] Ohba C., Shiina M., Tohyama J. mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia. 2015;56:841-848. GRIN1
  • [Rossi et al., 2017] Rossi M., Chatron N., Labalme A. Novel homozygous missense variant of in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet. 2017;25:376-380. GRIN1
  • [Scheffer et al., 2017] Scheffer I.E., Berkovic S., Capovilla G. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58:512-521.
  • [Zehavi et al., 2017] Zehavi Y., Mandel H., Zehavi A. mutations: an emerging cause of severe early infantile encephalopathy. Eur J Med Genet. 2017;60:317-320. De novo GRIN1