Associated Papers
Mutant zebrafish lacking slc25a22a show spontaneous seizures and respond to the anti-seizure medication valproic acid.
Lee SH et al.
Disease Models & Mechanisms, 2025
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C et al.
European Journal of Human Genetics : Ejhg, 2019
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
Reid ES et al.
Journal of Inherited Metabolic Disease, 2017
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.
Nicotera AG et al.
Journal of Neurogenetics, 0
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