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De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype

Nicotera, AG; Dicanio, D; Pironti, E; Bonsignore, M; Cafeo, A; Efthymiou, S; Mondello, P; ... Di Rosa, G; + view all (2021) De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype. Journal of Neurogenetics , 35 (2) pp. 67-73. 10.1080/01677063.2021.1892094. Green open access

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Abstract

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.

Type: Article
Title: De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/01677063.2021.1892094
Publisher version: https://doi.org/10.1080/01677063.2021.1892094
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: Dyskinetic movements; epileptic encephalopathy; glutamate; oculogyric crisis; SLC25A22 gene
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/10127937
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