Affiliation: Paracelsus Private Medical University
Koch J, Mayr J, Alhaddad B, Rauscher C, Bierau J, Kovacs Nagy R, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain. 2017;140:279-286 pubmed publisher
Koch J, Freisinger P, Feichtinger R, Zimmermann F, Rauscher C, Wagentristl H, et al. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis. 2015;10:40 pubmed publisher
..However, TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder. Normal MRC complex III activity does not exclude the diagnosis. ..