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Article

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

Journal of neurogenetics - 1 Jan 2000

Nicotera Antonio Gennaro, Dicanio Daniela, Pironti Erica, Bonsignore Maria, Cafeo Anna, Efthymiou Stephanie, Mondello Patrizia, Salpietro Vincenzo, Houlden Henry, Di Rosa Gabriella

Abstract excerpt

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in...

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Source

Identifiers

PMID: 33821742
DOI: 10.1080/01677063.2021.1892094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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