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

Pironti, E; Granata, F; Cucinotta, F; Gagliano, A; Efthymiou, S; Houlden, H; Salpietro, V; (2018) Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. Epileptic Disorders , 20 (5) pp. 423-427. 10.1684/epd.2018.0992. Green open access

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Abstract

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].

Type: Article
Title: Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study
Location: France
Open access status: An open access version is available from UCL Discovery
DOI: 10.1684/epd.2018.0992
Publisher version: http://www.jle.com/10.1684/epd.2018.0992
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: GRIN1 gene, NMDA receptors, epileptic encephalopathy, hyperkinetic movements, oculogyric crisis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10062266
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