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Louis Ptacek, MD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Phone415-514-9305
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    Collapse Biography 
    Collapse Awards and Honors
    Brandies University2006Bauer Foundation Distinguished Professor
    American Academy of Neurology2006Fellow
    American Society for Clinical Investigation2000Elected
    American Neurological Association1997Derek Denny-Brown Neurological Scholar Award
    University of Utah1996Golden Anniversary Prize for Distinguished Clinical Investigation
    American Neurological Association1992Travel Award
    American Neurological Association1992Presidents Award

    Collapse Overview 
    Collapse Overview
    Episodic phenomena (epilepsy, migraine, and cardiac arrhythmias) are among the most common disorders afflicting humans. Early in his career, Ptácek 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, Ptácek 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.

    Ptácek is an HHMI Investigator, and an associate editor of The Journal of Clinical Investigation and Neurogenetics. He is a member of the American Academy of Arts and Sciences, the Institute of Medicine, and the National Academy of Science.

    Collapse Research 
    Collapse Research Activities and Funding
    Probing genetics and biology of human circadian function
    NIH/NINDS R01NS099333Sep 25, 2017 - Aug 31, 2022
    Role: Principal Investigator
    Genetic and molecular pathophysiology of ATS
    NIH/NINDS R01NS091276Sep 1, 2015 - Jun 30, 2020
    Role: Principal Investigator
    The molecular and genetic basis of myoclonic epilepsy
    NIH/NINDS R01NS044379Sep 1, 2002 - Aug 31, 2007
    Role: Principal Investigator
    Molecular characterization of Familial dyskinesias
    NIH/NINDS R01NS043533Jun 15, 2002 - May 31, 2006
    Role: Principal Investigator
    GENETICS,MOLECULAR BIOLANDPHARMACOLOGICS--EPILEPSY GENES
    NIH/NINDS R01NS038616Apr 15, 1999 - Feb 28, 2004
    Role: Principal Investigator
    Characterization of Familial Advanced Sleep Phase Syndrome
    NIH/NINDS R56NS089959Sep 30, 1997 - May 31, 2015
    Role: Principal Investigator
    Characterization of familial advanced sleep phase syndrome
    NIH/NHLBI R01HL059596Sep 30, 1997 - May 31, 2013
    Role: Principal Investigator
    GENETICS OF HEREDITARY ATAXIA WITH MACULAR DEGENERATION
    NIH/NINDS R29NS032711Jun 3, 1994 - May 31, 2000
    Role: Principal Investigator
    GENETIC LINKAGE AND ION CHANNELS IN PERIODIC PARALYSES
    NIH/NICHD K11HD000940Jul 1, 1991 - Jun 30, 1997
    Role: Principal Investigator
    General Clinical Research Center
    NIH M01RR000064Dec 1, 1977 - Feb 28, 2011
    Role: Co-Investigator
    General Clinical Research Center
    NIH/NCRR M01RR000079Dec 1, 1974 - Mar 31, 2009
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Global Health
    Collapse Websites
    Collapse Featured Videos

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
    List All   |   Timeline
    1. Müller U, Auburger G, Graeber MB, Ptacek LJ. Developing the field of neurogenetics. Neurogenetics. 2017 Dec; 18(4):183-184. PMID: 29164503.
      View in: PubMed
    2. Ptáoek LJ, Fu YH, Krystal AD. Sleep and Mood: Chicken or Egg? Biol Psychiatry. 2016 12 01; 80(11):810-811. PMID: 27968724.
      View in: PubMed
    3. Arble DM, Bass J, Behn CD, Butler MP, Challet E, Czeisler C, Depner CM, Elmquist J, Franken P, Grandner MA, Hanlon EC, Keene AC, Joyner MJ, Karatsoreos I, Kern PA, Klein S, Morris CJ, Pack AI, Panda S, Ptacek LJ, Punjabi NM, Sassone-Corsi P, Scheer FA, Saxena R, Seaquest ER, Thimgan MS, Van Cauter E, Wright KP. Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. Sleep. 2015 Dec 01; 38(12):1849-60. PMID: 26564131.
      View in: PubMed
    4. Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptácek LJ. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Proc Natl Acad Sci U S A. 2015 Mar 10; 112(10):2935-41. PMID: 25730884; PMCID: PMC4364199.
      View in: PubMed, PubMed Central
    5. Ptácek LJ. Episodic disorders: channelopathies and beyond. Annu Rev Physiol. 2015; 77:475-9. PMID: 25668025.
      View in: PubMed
    6. Hsu PK, Ptácek LJ, Fu YH. Genetics of human sleep behavioral phenotypes. Methods Enzymol. 2015; 552:309-24. PMID: 25707283.
      View in: PubMed
    7. Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczaluba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptácek LJ. Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle Nerve. 2015 Feb; 51(2):192-6. PMID: 24861851.
      View in: PubMed
    8. Lee HY, Fu YH, Ptácek LJ. Episodic and electrical nervous system disorders caused by nonchannel genes. Annu Rev Physiol. 2015; 77:525-41. PMID: 25340963.
      View in: PubMed
    9. Lin ST, Heng MY, Ptácek LJ, Fu YH. Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs. Transl Neurodegener. 2014 Feb 05; 3(1):4. PMID: 24495672; PMCID: PMC3937061.
      View in: PubMed, PubMed Central
    10. Shin D, Lin ST, Fu YH, Ptácek LJ. Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gas/Gaq-mediated protein kinases A/C. Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47):19101-6. PMID: 24191038; PMCID: PMC3839775.
      View in: PubMed, PubMed Central
    11. Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH. MicroRNA-23a promotes myelination in the central nervous system. Proc Natl Acad Sci U S A. 2013 Oct 22; 110(43):17468-73. PMID: 24101522; PMCID: PMC3808585.
      View in: PubMed, PubMed Central
    12. Hallows WC, Ptácek LJ, Fu YH. Solving the mystery of human sleep schedules one mutation at a time. Crit Rev Biochem Mol Biol. 2013 Sep-Oct; 48(5):465-75. PMID: 24001255; PMCID: PMC4089902.
      View in: PubMed, PubMed Central
    13. Kurien PA, Chong SY, Ptácek LJ, Fu YH. Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function. Curr Opin Neurobiol. 2013 Oct; 23(5):873-9. PMID: 23702243; PMCID: PMC3766463.
      View in: PubMed, PubMed Central
    14. Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptácek LJ, Fu YH. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J Clin Invest. 2013 Jun; 123(6):2719-29. PMID: 23676464; PMCID: PMC3668844.
      View in: PubMed, PubMed Central
    15. Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptácek LJ. Casein kinase id mutations in familial migraine and advanced sleep phase. Sci Transl Med. 2013 May 01; 5(183):183ra56, 1-11. PMID: 23636092; PMCID: PMC4220792.
      View in: PubMed, PubMed Central
    16. Russell JF, Fu YH, Ptácek LJ. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annu Rev Neurosci. 2013 Jul 08; 36:25-50. PMID: 23642134.
      View in: PubMed
    17. Shi G, Xing L, Liu Z, Qu Z, Wu X, Dong Z, Wang X, Gao X, Huang M, Yan J, Yang L, Liu Y, Ptácek LJ, Xu Y. Dual roles of FBXL3 in the mammalian circadian feedback loops are important for period determination and robustness of the clock. Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12):4750-5. PMID: 23471982; PMCID: PMC3606995.
      View in: PubMed, PubMed Central
    18. Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptácek LJ, Fu YH. Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock. Cell Metab. 2013 Feb 05; 17(2):291-302. PMID: 23395175; PMCID: PMC3597447.
      View in: PubMed, PubMed Central
    19. Zhang L, Ptácek LJ, Fu YH. Diversity of human clock genotypes and consequences. Prog Mol Biol Transl Sci. 2013; 119:51-81. PMID: 23899594; PMCID: PMC4169291.
      View in: PubMed, PubMed Central
    20. Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptácek LJ. PKC? participates in food entrainment by regulating BMAL1. Proc Natl Acad Sci U S A. 2012 Dec 11; 109(50):20679-84. PMID: 23185022; PMCID: PMC3528600.
      View in: PubMed, PubMed Central
    21. Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 2012 Nov 20; 79(21):2097-103. PMID: 23077017; PMCID: PMC3511924.
      View in: PubMed, PubMed Central
    22. Dahal GR, Rawson J, Gassaway B, Kwok B, Tong Y, Ptácek LJ, Bates E. An inwardly rectifying K+ channel is required for patterning. Development. 2012 Oct; 139(19):3653-64. PMID: 22949619; PMCID: PMC3436115.
      View in: PubMed, PubMed Central
    23. Chong SY, Ptácek LJ, Fu YH. Genetic insights on sleep schedules: this time, it's PERsonal. Trends Genet. 2012 Dec; 28(12):598-605. PMID: 22939700; PMCID: PMC3500418.
      View in: PubMed, PubMed Central
    24. Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptácek LJ. Familial cortical myoclonus with a mutation in NOL3. Ann Neurol. 2012 Aug; 72(2):175-83. PMID: 22926851; PMCID: PMC3431191.
      View in: PubMed, PubMed Central
    25. Jones CR, Huang AL, Ptácek LJ, Fu YH. Genetic basis of human circadian rhythm disorders. Exp Neurol. 2013 May; 243:28-33. PMID: 22849821; PMCID: PMC3514403.
      View in: PubMed, PubMed Central
    26. Shin D, Howng SY, Ptácek LJ, Fu YH. miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. Neuroscience. 2012 Jun 28; 213:29-37. PMID: 22521588; PMCID: PMC3370422.
      View in: PubMed, PubMed Central
    27. Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptácek LJ, Fu YH. Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock. PLoS One. 2012; 7(2):e31987. PMID: 22384121; PMCID: PMC3288064.
      View in: PubMed, PubMed Central
    28. Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest. 2012 Feb; 122(2):507-18. PMID: 22214848; PMCID: PMC3533379.
      View in: PubMed, PubMed Central
    29. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptácek LJ. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12. PMID: 22832103.
      View in: PubMed
    30. Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu YH, Ptacek LJ, Yamamoto KR, Feldman BJ. Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate. J Biol Chem. 2011 Mar 18; 286(11):9063-70. PMID: 21228270; PMCID: PMC3058992.
      View in: PubMed, PubMed Central
    31. Zhang L, Jones CR, Ptacek LJ, Fu YH. The genetics of the human circadian clock. Adv Genet. 2011; 74:231-47. PMID: 21924979.
      View in: PubMed
    32. Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord. 2010 Sep; 12(3):199-204. PMID: 20716510.
      View in: PubMed
    33. Ptácek LJ. In memoriam: Louis John Ptácek, Sr, MD (1929-2006). J Child Neurol. 2009 Apr; 24(4):519-20. PMID: 19639699.
      View in: PubMed
    34. Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H. Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. Eur Neurol. 2009; 61(1):39-41. PMID: 18948699.
      View in: PubMed
    35. Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptacek LJ, La Spada AR, Ellerby LM. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. J Biol Chem. 2007 Oct 12; 282(41):30150-60. PMID: 17646170.
      View in: PubMed
    36. Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan; 80(1):69-75. PMID: 17160895; PMCID: PMC1785317.
      View in: PubMed, PubMed Central
    37. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet. 2006 Sep; 14(9):999-1008. PMID: 16736036.
      View in: PubMed
    38. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat. 2006 Jan; 27(1):118. PMID: 16329096.
      View in: PubMed
    39. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005 Nov; 20(11):1405-12. PMID: 16037936.
      View in: PubMed
    40. Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 May 31; 111(21):2720-6. PMID: 15911703.
      View in: PubMed
    41. Klein BD, Fu YH, Ptacek LJ, White HS. Auditory deficits associated with the frings mgr1 (mass1) mutation in mice. Dev Neurosci. 2005; 27(5):321-32. PMID: 16137990.
      View in: PubMed
    42. Klein BD, Fu YH, Ptacek LJ, White HS. c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse. Epilepsy Res. 2004 Nov; 62(1):13-25. PMID: 15519128.
      View in: PubMed
    43. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7. PMID: 15174025.
      View in: PubMed
    44. Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004 Feb; 19(2):228-30. PMID: 14978684.
      View in: PubMed
    45. Donaldson MR, Yoon G, Fu YH, Ptacek LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004; 36 Suppl 1:92-7. PMID: 15176430.
      View in: PubMed
    46. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec; 73(6):1459-64. PMID: 14624391; PMCID: PMC1180409.
      View in: PubMed, PubMed Central
    47. Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003 Jan; 60(1):97-103. PMID: 12533095.
      View in: PubMed
    48. Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum Mol Genet. 2003 Jan 01; 12(1):41-50. PMID: 12490531.
      View in: PubMed
    49. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug; 110(3):381-8. PMID: 12163457; PMCID: PMC151085.
      View in: PubMed, PubMed Central
    50. Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002 Jun 15; 22(12):4897-905. PMID: 12077187.
      View in: PubMed
    51. Ptacek L. Channelopathies: episodic disorders of the nervous system. Novartis Found Symp. 2002; 241:87-104; discussion 104-8, 226-32. PMID: 11771653.
      View in: PubMed
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