PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1057519566 in
MDH2 gene and
Encephalopathy, CTCAE 3.0
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.