SLC25A22

Publications

André MV et al. The Phenotype Caused by Recessive Variations in SLC25A22: Report of a New Case and Literature Review. Arch Pediatrie. 2021:28(1)87‑92. PMID: 33342683.

Cohen R et al. Two Siblings with Early Infantile Myoclonic Encephalopathy Due to Mutation in the Gene Encoding Mitochondrial Glutamate/H+ Symporter SLC25A22. Eur J Paediatr Neurol. 2014;18(6):801‑05. PMID: 25033742.

Giacomini T et al. Severe Early-Onset Developmental and Epileptic Encephalopathy (DEE) Associated with Novel Compound Heterozygous Pathogenic Variants in SLC25A22: Case Report and Literature Review. Seizure. 2019;70:56‑58. PMID: 31279168.

Goubert E et al. Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation. Front Cell Neurosci. 2017;11:149. PMID: 28620281.

Lemattre C et al. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group. Eur J Hum Genet. 2019;27(11):1692‑700. PMID: 31285529.

Molinari F et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. 2005;76(2):334‑39. PMID: 15592994.

Molinari F et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76(2):188‑94. PMID: 19780765.

Nicotera AG et al. De Novo Mutation in SLC25A22 Gene: Expansion of the Clinical and Electroencephalographic Phenotype. J Neurogenet. 2021;35(2):67‑73. PMID: 33821742.

Poduri A et al. SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy. Ann Neurol. 2013:74(6):873‑82. PMID: 24596948.

Reid ES et al. Mutations in SLC25A22: Hyperprolinaemia, Vacuolated Fibroblasts and Presentation with Developmental Delay. J Inherit Metab Dis. 2017:40(3):385‑94. PMID: 28255779.