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Article

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2021

André M-V, Cacciagli P, Cano A, Vaugier L, Roussel M, Girard N, Chabrol B, Villard L, Milh M

Abstract excerpt

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...

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PMID: 33342683
DOI: 10.1016/j.arcped.2020.10.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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