Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics[citation needed] in University of California, San Francisco, School of Medicine.
His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations.
[2] During his neurology residency at University of Utah, he met a 28-year-old female patient who was suffering from sporadic paralysis, that inspired his current interest in the research of genetic diseases and episodic disorders.
[1][3] This invoked a series of discoveries of mutant ion channel genes that constructed the framework for studying similar diseases, which Ptáček calls "channelopathies.
"[4] In 1999, Christopher Jones, a neurologist from University of Utah who specializes in sleep disorders, contacted Ptáček to characterize a family of early risers and find the genes associated with this phenotype.
[8] Additionally, he has identified other markers of the KCNJ2 channel mutation's including its ECG outputs' T-Wave and U-Wave patterns in order to provide more accurate differential diagnosis from Long QT Syndrome.
[9] Ptáček, with a team of collaborators, hypothesized that thyrotoxic periodic paralysis may be a case of channelopathy and can arise from ion channel mutations that display symptoms with hyperthyroidism.