Kohlschutter-Tonz Syndrome (KTZS)

Kohlschutter-Tonz Syndrome, also known as amelocerebrohypohidrotic syndrome, is related to developmental and epileptic encephalopathy 25 and amelogenesis imperfecta, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Atypical Leucine Zipper). The drugs Levodopa and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are seizure and spasticity