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