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
[Course of gelastic epilepsy in a boy with non operated hypothalamic hamartoma].
Biedroń A, Steczkowska M, Gergont A, Kroczka S.
Przegl Lek. 2010;67(11):1217-22.
PMID:21442980
[Neurological symptoms and visual disturbance triggered by anaphylactic shock the sting of a hornet. Case report].
Puchalska-Niedbał L.
Ann Acad Med Stetin. 2007;53 Suppl 1:90-3; discussion 93.