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.
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
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
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