The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of mitochondrial glutamate/H+ symporter SLC25A22. Epilepsy began during the first week of life with focal onset seizures. Interictal EEG revealed a suppression-burst pattern with extensive periods of non-activity. The prospective follow-up confirmed developmental encephalopathy as well as ongoing active epilepsy and almost no sign of development at 8 years of age. We confirm in the following paper that SLC25A22 recessive variations may cause a severe developmental and epileptic encephalopathy characterized by a suppression-burst pattern. On the basis of an in-depth literature review, we also provide an overview of this rare genetic cause of neonatal onset epilepsy. Copyright © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Citation

M-V André, P Cacciagli, A Cano, L Vaugier, M Roussel, N Girard, B Chabrol, L Villard, M Milh. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 2021 Jan;28(1):87-92

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PMID: 33342683

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