Louis J. Ptáček, M.D.
John C. Coleman Distinguished Professor of Neurology
Phone: 415-502-5614 or 502-3981
Fax: 415-502-5641
Email: ljp@ucsf.edu
Box #: 2922
Episodic phenomena (epilepsy, migraine, and cardiac arrhythmias) are among the most common disorders afflicting humans. Early in his career, Ptáček began studying patients with rare Mendelian muscle disorders (periodic paralysis) and proposed these as a model of more common episodic disorders. In 1990, he began systematically characterizing genes causing familial forms of periodic paralysis. This series of landmark discoveries identified mutant ion channel genes and laid the groundwork for the field now called the "channelopathies." He proposed that all the work in channelopathies of skeletal muscle would be model for episodic disorders of heart and brain. Subsequently, his group and others have identified homologous genes that (when mutated) cause cardiac arrhythmias, epilepsy, and migraine. He has gone from describing new syndromes to cloning causative genes, to biological study in vitro and in vivo (animal models).
More recently, Ptáček led the team that characterized the first Mendelian variant in human circadian function. He and his colleague Ying-Hui Fu have gone on to clone and characterize numerous genes causing this phenotype. This work has led to novel insights into human circadian biology.
Ptáček is an HHMI Investigator, a Council member at NINDS, and an associate editor of Neurogenetics and Journal of Neuroscience. He is a member of the American Academy of Arts and Sciences and the Institute of Medicine of the National Academies.
Selected Publications
Lee HY, Xu Y, Huang Y, Ahn AH, Aubuger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptáček LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004;13(24);3161-70.
Yoon G, Quitania L, Kramer JH, Fu YH, Miller BL, Ptáček LJ. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun 13; 66(11):1703-10.
Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptáček LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell. 2007 Jan 12; 128(1):59-70.
Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptáček LJ. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9.
Ryan D, Dias da Silva M, Soong TW, Fontaine B, Donaldson M, Kung AWC, Jongjaroenprasert W, Liang MC, Khoo D, Cheah JS, Ho SC, Bernstein H, Maciel R, Brown R, Ptáček LJ. Mutations in a novel potassium channel (Kir2.6) causes susceptibility to thyrotoxic hypokalemic periodic paralysis (Submitted).
