Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

SLC25A22 deficiency is a rare cause of familial and sporadic early onset developmental and epileptic encephalopathy (DEE) and epilepsy of infancy with migrating focal seizures (EIMFS) [1,2]. Patients typically present with refractory seizures, hypotonia, visual inattention with post-retinal dysfunction, microcephaly, neuroimaging abnormalities, burst-suppression pattern on EEG [1,2]. SLC25A22 is an important mitochondrial glutamate transporter in the liver and in the brain, it is highly expressed in astrocytes.

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