The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review - 09/01/21
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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.
Le texte complet de cet article est disponible en PDF.Keywords : SLC25A22, Early developmental and epileptic encephalopathy, Suppression-burst, Myoclonic seizures
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Vol 28 - N° 1
P. 87-92 - janvier 2021 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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