HAL will be down for maintenance from Friday, June 10 at 4pm through Monday, June 13 at 9am. More information
Skip to Main content Skip to Navigation
Journal articles

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.
Complete list of metadata

https://hal-amu.archives-ouvertes.fr/hal-03148905
Contributor : Valérie Gall Connect in order to contact the contributor
Submitted on : Monday, February 22, 2021 - 3:56:58 PM
Last modification on : Friday, March 11, 2022 - 3:59:47 PM

Links full text

Identifiers

Collections

Citation

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

Share

Metrics

Record views

34