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
Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.
Cohen R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
Mitochondrial transporters of the SLC25 family and associated diseases: a review.
Palmieri F
Journal of Inherited Metabolic Disease, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Poduri A et al.
Annals of Neurology, 2013
Mitochondrial glutamate carriers from Drosophila melanogaster: biochemical, evolutionary and modeling studies.
Lunetti P et al.
Biochimica Et Biophysica Acta, 2013
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ et al.
European Journal of Medical Genetics, 2012
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.
Nicita F et al.
Seizure, 2012
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Mastrangelo M et al.
Pediatric Neurology, 2012
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.
Fiermonte G et al.
Molecular Genetics and Metabolism, 2011
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
Mitochondria and neonatal epileptic encephalopathies with suppression burst.
Molinari F
Journal of Bioenergetics and Biomembranes, 2010
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
Molinari F et al.
Clinical Genetics, 2009
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0