SLC13A5, neuronal citrate transport, and epileptic encephalopathies

TCA cycle. While most genetic epileptic encephalopathies are due to de novo mutations, there is increasing knowledge about epileptic encephalopathies due to recessive mutations, often with entirely unexpected mechanisms. In a recent publication in Brain, we were able to expand the phenotype of a neonatal epileptic encephalopathy due to a deficiency of the neuronal citrate transporter. Furthermore, in addition to GLUT1 deficiency and pyruvate dehydrogenase deficiency, SLC13A5 seems to be a third disease where the ketogenic diet may represent a causal treatment option. Continue reading