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.
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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.
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