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Journal Articles Archives de Pédiatrie Year : 2021

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

Abstract

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.
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hal-03148905 , version 1 (03-02-2023)

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M.-V. André, Pierre Cacciagli, A. Cano, L. Vaugier, M. Roussel, et al.. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review. Archives de Pédiatrie, 2021, 28 (1), pp.87-92. ⟨10.1016/j.arcped.2020.10.015⟩. ⟨hal-03148905⟩

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