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

M.-V. André 1 P. Cacciagli 2 A. Cano L. Vaugier M. Roussel N. Girard B. Chabrol Laurent Villard 2 M. Milh 1
1 Service de pédiatrie et neurologie pédiatrique
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
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.
Keywords : Early developmental and epileptic encephalopathy Myoclonic seizures SLC25A22 Suppression-burst.
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https://hal-amu.archives-ouvertes.fr/hal-03148905
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Submitted on : Monday, February 22, 2021 - 3:56:58 PM
Last modification on : Tuesday, February 23, 2021 - 3:12:36 AM

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M.-V. André, P. 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, Elsevier, 2021, 28 (1), pp.87-92. ⟨10.1016/j.arcped.2020.10.015⟩. ⟨hal-03148905⟩

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