A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Oral surgery, oral medicine, oral pathology and oral radiology"
DOI: 10.1016/j.oooo.2017.09.016
Abstract: OBJECTIVE Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region… read more here.
Keywords: rogdi; tonz syndrome; kohlschutter tonz; rogdi gene ... See more keywords
Rogdi Defines GABAergic Control of a Wake-promoting Dopaminergic Pathway to Sustain Sleep in Drosophila
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11941-3
Abstract: Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here… read more here.
Keywords: drosophila; rogdi; wake promoting; promoting dopaminergic ... See more keywords