Louis Ptacek, MD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Address1550 Fourth St, #548F
San Francisco CA 94158
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    Other Positions
    Title(s)UCSF Weill Institute for Neurosciences

    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 Association1992Presidents Award
    American Neurological Association1992Travel Award
    2007National Academy of Medicine
    2008American Academy of Arts and Sciences
    2009American Association of Physicians
    2012UCSF Faculty Lecture Award in Basic Science (the highest award UCSF bestows upon its faculty)
    2012National Academy of Sciences
    American Society of Clinical Investigation2015Stanley J. Korsmeyer Award
    American Association for the Advancement of Science2016Fellow
    Sleep Research Society2019Distinguished Scientist 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 sleep homeostasis
    NIH R01NS117929Aug 1, 2021 - Jul 31, 2026
    Role: Principal Investigator
    Probing genetics and biology of human circadian function
    NIH R01NS099333Sep 25, 2017 - Aug 31, 2022
    Role: Principal Investigator
    Genetic and molecular pathophysiology of ATS
    NIH R01NS091276Sep 1, 2015 - Jun 30, 2020
    Role: Principal Investigator
    The molecular and genetic basis of myoclonic epilepsy
    NIH R01NS044379Sep 1, 2002 - Aug 31, 2007
    Role: Principal Investigator
    Molecular characterization of Familial dyskinesias
    NIH R01NS043533Jun 15, 2002 - May 31, 2006
    Role: Principal Investigator
    NIH R01NS038616Apr 15, 1999 - Feb 28, 2004
    Role: Principal Investigator
    Characterization of Familial Advanced Sleep Phase Syndrome
    NIH R56NS089959Sep 30, 1997 - May 31, 2016
    Role: Principal Investigator
    Characterization of familial advanced sleep phase syndrome
    NIH R01HL059596Sep 30, 1997 - May 31, 2013
    Role: Principal Investigator
    NIH R29NS032711Jun 3, 1994 - May 31, 2000
    Role: Principal Investigator
    NIH 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 M01RR000079Dec 1, 1974 - Mar 31, 2009
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Collaboration Interests

    Collapse Featured Content 
    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures-Improving Sleep and Seizures, Themes for Future Research. Epilepsy Curr. 2021 03 31; 15357597211004566. Quigg M, Bazil CW, Boly M, St Louis EK, Liu J, Ptacek L, Maganti R, Kalume F, Gluckman BJ, Pathmanathan J, Pavlova MK, Buchanan GF. PMID: 33787387; PMCID: PMC8609596.
      View in: PubMed   Mentions: 3  
    2. Developing the field of neurogenetics. Neurogenetics. 2017 12; 18(4):183-184. Müller U, Auburger G, Graeber MB, Ptacek LJ. PMID: 29164503.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    3. Sleep and Mood: Chicken or Egg? Biol Psychiatry. 2016 12 01; 80(11):810-811. Ptáoek LJ, Fu YH, Krystal AD. PMID: 27968724.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    4. Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. Sleep. 2015 Dec 01; 38(12):1849-60. 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. PMID: 26564131; PMCID: PMC4667373.
      View in: PubMed   Mentions: 69     Fields:    Translation:HumansAnimals
    5. 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. Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptácek LJ. PMID: 25730884; PMCID: PMC4364199.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    6. Episodic disorders: channelopathies and beyond. Annu Rev Physiol. 2015; 77:475-9. Ptácek LJ. PMID: 25668025.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    7. Genetics of human sleep behavioral phenotypes. Methods Enzymol. 2015; 552:309-24. Hsu PK, Ptácek LJ, Fu YH. PMID: 25707283.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimals
    8. Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle Nerve. 2015 Feb; 51(2):192-6. 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. PMID: 24861851.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    9. Episodic and electrical nervous system disorders caused by nonchannel genes. Annu Rev Physiol. 2015; 77:525-41. Lee HY, Fu YH, Ptácek LJ. PMID: 25340963.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    10. Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs. Transl Neurodegener. 2014 Feb 05; 3(1):4. Lin ST, Heng MY, Ptácek LJ, Fu YH. PMID: 24495672; PMCID: PMC3937061.
      View in: PubMed   Mentions: 16     Fields:    
    11. Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C. Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47):19101-6. Shin D, Lin ST, Fu YH, Ptácek LJ. PMID: 24191038; PMCID: PMC3839775.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    12. MicroRNA-23a promotes myelination in the central nervous system. Proc Natl Acad Sci U S A. 2013 Oct 22; 110(43):17468-73. Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH. PMID: 24101522; PMCID: PMC3808585.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansAnimalsCells
    13. Solving the mystery of human sleep schedules one mutation at a time. Crit Rev Biochem Mol Biol. 2013 Sep-Oct; 48(5):465-75. Hallows WC, Ptácek LJ, Fu YH. PMID: 24001255; PMCID: PMC4089902.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    14. Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function. Curr Opin Neurobiol. 2013 Oct; 23(5):873-9. Kurien PA, Chong SY, Ptácek LJ, Fu YH. PMID: 23702243; PMCID: PMC3766463.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    15. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J Clin Invest. 2013 Jun; 123(6):2719-29. Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptácek LJ, Fu YH. PMID: 23676464; PMCID: PMC3668844.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimalsCells
    16. Casein kinase iδ mutations in familial migraine and advanced sleep phase. Sci Transl Med. 2013 May 01; 5(183):183ra56, 1-11. Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptácek LJ. PMID: 23636092; PMCID: PMC4220792.
      View in: PubMed   Mentions: 94     Fields:    Translation:HumansAnimalsCells
    17. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annu Rev Neurosci. 2013 Jul 08; 36:25-50. Russell JF, Fu YH, Ptácek LJ. PMID: 23642134.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    18. 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. 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. PMID: 23471982; PMCID: PMC3606995.
      View in: PubMed   Mentions: 24     Fields:    Translation:AnimalsCells
    19. Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock. Cell Metab. 2013 Feb 05; 17(2):291-302. Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptácek LJ, Fu YH. PMID: 23395175; PMCID: PMC3597447.
      View in: PubMed   Mentions: 129     Fields:    Translation:HumansAnimalsCells
    20. Diversity of human clock genotypes and consequences. Prog Mol Biol Transl Sci. 2013; 119:51-81. Zhang L, Ptácek LJ, Fu YH. PMID: 23899594; PMCID: PMC4169291.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    21. PKCγ participates in food entrainment by regulating BMAL1. Proc Natl Acad Sci U S A. 2012 Dec 11; 109(50):20679-84. Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptácek LJ. PMID: 23185022; PMCID: PMC3528600.
      View in: PubMed   Mentions: 16     Fields:    Translation:AnimalsCells
    22. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 2012 Nov 20; 79(21):2097-103. 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. PMID: 23077017; PMCID: PMC3511924.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    23. An inwardly rectifying K+ channel is required for patterning. Development. 2012 Oct; 139(19):3653-64. Dahal GR, Rawson J, Gassaway B, Kwok B, Tong Y, Ptácek LJ, Bates E. PMID: 22949619; PMCID: PMC3436115.
      View in: PubMed   Mentions: 68     Fields:    Translation:AnimalsCells
    24. Genetic insights on sleep schedules: this time, it's PERsonal. Trends Genet. 2012 Dec; 28(12):598-605. Chong SY, Ptácek LJ, Fu YH. PMID: 22939700; PMCID: PMC3500418.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    25. Familial cortical myoclonus with a mutation in NOL3. Ann Neurol. 2012 Aug; 72(2):175-83. 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. PMID: 22926851; PMCID: PMC3431191.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    26. Genetic basis of human circadian rhythm disorders. Exp Neurol. 2013 May; 243:28-33. Jones CR, Huang AL, Ptácek LJ, Fu YH. PMID: 22849821; PMCID: PMC3514403.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansAnimals
    27. miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. Neuroscience. 2012 Jun 28; 213:29-37. Shin D, Howng SY, Ptácek LJ, Fu YH. PMID: 22521588; PMCID: PMC3370422.
      View in: PubMed   Mentions: 31     Fields:    Translation:AnimalsCells
    28. Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock. PLoS One. 2012; 7(2):e31987. Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptácek LJ, Fu YH. PMID: 22384121; PMCID: PMC3288064.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    29. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest. 2012 Feb; 122(2):507-18. Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ. PMID: 22214848; PMCID: PMC3533379.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    30. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12. 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. PMID: 22832103; PMCID: PMC3334308.
      View in: PubMed   Mentions: 109     Fields:    Translation:HumansAnimalsCells
    31. Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate. J Biol Chem. 2011 Mar 18; 286(11):9063-70. Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu YH, Ptacek LJ, Yamamoto KR, Feldman BJ. PMID: 21228270; PMCID: PMC3058992.
      View in: PubMed   Mentions: 45     Fields:    Translation:AnimalsCells
    32. The genetics of the human circadian clock. Adv Genet. 2011; 74:231-47. Zhang L, Jones CR, Ptacek LJ, Fu YH. PMID: 21924979.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    33. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord. 2010 Sep; 12(3):199-204. 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. PMID: 20716510.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    34. In memoriam: Louis John Ptácek, Sr, MD (1929-2006). J Child Neurol. 2009 Apr; 24(4):519-20. Ptácek LJ. PMID: 19639699.
      View in: PubMed   Mentions:    Fields:    
    35. Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. Eur Neurol. 2009; 61(1):39-41. Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H. PMID: 18948699.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    36. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. J Biol Chem. 2007 Oct 12; 282(41):30150-60. 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. PMID: 17646170.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimalsCells
    37. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24; 68(17):1382-9. Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. PMID: 17452583.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    38. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan; 80(1):69-75. Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. PMID: 17160895; PMCID: PMC1785317.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    39. 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. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. PMID: 16736036.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    40. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat. 2006 Jan; 27(1):118. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. PMID: 16329096.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    41. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005 Nov; 20(11):1405-12. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. PMID: 16037936.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    42. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan; 129(Pt 1):8-17. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC, CINCH investigators. PMID: 16195244.
      View in: PubMed   Mentions: 98     Fields:    Translation:HumansAnimalsCells
    43. 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. 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. PMID: 15911703.
      View in: PubMed   Mentions: 82     Fields:    Translation:Humans
    44. The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics. 2005 May; 85(5):582-90. Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. PMID: 15820310; PMCID: PMC2855294.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    45. Auditory deficits associated with the frings mgr1 (mass1) mutation in mice. Dev Neurosci. 2005; 27(5):321-32. Klein BD, Fu YH, Ptacek LJ, White HS. PMID: 16137990.
      View in: PubMed   Mentions: 3     Fields:    Translation:Animals
    46. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. PMID: 15623687.
      View in: PubMed   Mentions: 117     Fields:    Translation:Humans
    47. 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. Klein BD, Fu YH, Ptacek LJ, White HS. PMID: 15519128.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
    48. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. PMID: 15174025.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    49. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004 Feb; 19(2):228-30. Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K. PMID: 14978684.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    50. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004; 36 Suppl 1:92-7. Donaldson MR, Yoon G, Fu YH, Ptacek LJ. PMID: 15176430.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    51. 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. 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. PMID: 14624391; PMCID: PMC1180409.
      View in: PubMed   Mentions: 145     Fields:    Translation:HumansCells
    52. 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. 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. PMID: 12490531.
      View in: PubMed   Mentions: 28     Fields:    Translation:AnimalsCells
    53. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003 Jan; 60(1):97-103. Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH. PMID: 12533095.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    54. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug; 110(3):381-8. 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. PMID: 12163457; PMCID: PMC151085.
      View in: PubMed   Mentions: 149     Fields:    Translation:HumansAnimals
    55. 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. 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. PMID: 12077187; PMCID: PMC6757746.
      View in: PubMed   Mentions: 65     Fields:    Translation:AnimalsCells
    56. Channelopathies: episodic disorders of the nervous system. Novartis Found Symp. 2002; 241:87-104; discussion 104-8, 226-32. Ptacek L. PMID: 11771653.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    57. Channelopathies: episodic disorders of the nervous system. Epilepsia. 2001; 42 Suppl 5:35-43. Ptacek LJ, Fu YH. PMID: 11887966.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    58. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol. 2000 Jan; 47(1):46-53. Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. PMID: 10632100.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCTClinical Trials
    59. Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesth Analg. 1999 May; 88(5):1081-2. Viscomi CM, Ptacek LJ, Dudley D. PMID: 10320173.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    60. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998 Nov; 7(12):1851-8. Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. PMID: 9811928.
      View in: PubMed   Mentions: 82     Fields:    Translation:HumansCells
    61. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1998 Aug; 1(4):289-92. Einum DD, Zhang J, Arneson PJ, Menon AG, Ptacek LJ. PMID: 10732805.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    62. Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. Neuropsychiatry Neuropsychol Behav Neurol. 1998 Jan; 11(1):31-9. Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptacek LJ, Davis LE. PMID: 9560826.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    63. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology. 1997 Nov; 49(5):1231-8. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. PMID: 9371899.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    64. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct; 6(10):965-71. Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M. PMID: 8908515.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    65. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord. 1996 May; 6(3):143-50. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. PMID: 8784800.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    66. Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family. Ital J Neurol Sci. 1994 Dec; 15(9):473-80. Sansone V, Rotondo G, Ptacek LJ, Meola G. PMID: 7721550.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCellsCTClinical Trials
    67. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994 Aug; 44(8):1441-7. Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. PMID: 8058146.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    68. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve. 1994 Jul; 17(7):763-8. Jackson CE, Barohn RJ, Ptacek LJ. PMID: 8008003.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    69. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 Mar; 35(3):326-30. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. PMID: 8080508.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    70. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar; 33(3):300-7. Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL, Barchi RL, Robertson M, Leppert MF. PMID: 8388676.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    71. Genetics and physiology of the myotonic muscle disorders. N Engl J Med. 1993 Feb 18; 328(7):482-9. Ptacek LJ, Johnson KJ, Griggs RC. PMID: 7678441.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    72. Evidence of genetic heterogeneity among the nondystrophic myotonias. Neurology. 1992 May; 42(5):1046-8. Ptacek LJ, Ziter FA, Roberts JW, Leppert MF. PMID: 1315941.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    73. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb; 42(2):431-3. Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. PMID: 1310531.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    74. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991 Oct; 49(4):851-4. Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. PMID: 1654742; PMCID: PMC1683172.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    75. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet. 1991 Aug; 49(2):378-82. Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. PMID: 1651050; PMCID: PMC1683285.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    76. Fetal anticonvulsant drug exposure: a population based study. Neurotoxicology. 1986; 7(2):413-9. Robertson LD, Swaiman KF, Ptacek LJ. PMID: 3785759.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
      View in: PubMed   Mentions: 3     Fields:    
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