Linking Seizures and Amino Acid Homeostasis
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain amino acids could now be identified as the primarily defective cellular process. These findings, to which CENTOGENE contributed critical genetic data, were published in Brain.