Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim E, Seelow D, Gill E, von Moers A, Schuelke M.
Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4.
PMID:25446393
Nonconvulsive status epilepticus with generalized 'fast activity'.