John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

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

Vidéo

  • Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study

Illustrations

  • Figure 1
  • Figure 2
  • Figure 3
Auteurs
1 Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina
2 Department of Biomedical Sciences and Morphological and Functional,University of Messina, Messina, Italy
3 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
* Correspondence: Gabriella Di Rosa Dept of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
  • Mots-clés : GRIN1 gene, epileptic encephalopathy, oculogyric crisis, hyperkinetic movements, NMDA receptors
  • DOI : 10.1684/epd.2018.0992
  • Page(s) : 423-7
  • Année de parution : 2018

De novo mutations in the GRIN1 gene have been recently reported as the molecular cause of a broad-spectrum early-onset neurological phenotype. Here, we describe a five-year-old girl with an early-onset epileptic encephalopathy associated with an infantile hyperkinetic movement disorder and oculomotor abnormalities. Whole-exome sequencing identified a novel p.Met641Leu de novo variant in the GRIN1 gene as the cause of the phenotype. In silico analysis suggested that the p.Met641Leu variant would alter the gating property of the ion channel, with the involved methionine residue facing towards the ion pore. Long-term systematic video-EEG allowed us to report on the electroclinical history and, specifically, on the semiology of the hyperkinetic movement disorder and oculomotor abnormalities resembling oculogyric crises in our patient. Our findings and a review of the recent literature reinforce the notion of GRIN1-encephalopathy as a recognizable neurological phenotype that should be suspected in early-onset epilepsy associated with hyperkinetic movement disorders. [Published with video sequence on www.epilepticdisorders.com]