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Louis Ptacek, MD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Phone415-514-9305
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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 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 - Sep 29, 2006
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Global Health
    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 12; 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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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.
      View in: PubMed
    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. Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24; 68(17):1382-9. PMID: 17452583.
      View in: PubMed
    37. 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.
      View in: PubMed
    38. 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.
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    39. 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
    40. 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
    41. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan; 129(Pt 1):8-17. PMID: 16195244.
      View in: PubMed
    42. 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.
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    43. Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. 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. PMID: 15820310.
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    44. 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
    45. 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. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7. PMID: 15623687.
      View in: PubMed
    46. 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
    47. 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
    48. 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
    49. 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
    50. 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.
      View in: PubMed
    51. 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
    52. 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
    53. 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.
      View in: PubMed
    54. 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
    55. 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
    56. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001 Jan 26; 104(2):217-31. PMID: 11207363.
      View in: PubMed
    57. Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 2001; 42 Suppl 5:35-43. PMID: 11887966.
      View in: PubMed
    58. Waxman SG, Ptacek LJ. Chronic fatigue syndrome and channelopathies. Med Hypotheses. 2000 Nov; 55(5):457. PMID: 11058431.
      View in: PubMed
    59. Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol. 2000 Jan; 47(1):46-53. PMID: 10632100.
      View in: PubMed
    60. Viscomi CM, Ptacek LJ, Dudley D. Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesth Analg. 1999 May; 88(5):1081-2. PMID: 10320173.
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    61. 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. 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. PMID: 9811928.
      View in: PubMed
    62. Einum DD, Zhang J, Arneson PJ, Menon AG, Ptacek LJ. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1998 Aug; 1(4):289-92. PMID: 10732805.
      View in: PubMed
    63. Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptacek LJ, Davis LE. Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. Neuropsychiatry Neuropsychol Behav Neurol. 1998 Jan; 11(1):31-9. PMID: 9560826.
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    64. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology. 1997 Nov; 49(5):1231-8. PMID: 9371899.
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    65. 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. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct; 6(10):965-71. PMID: 8908515.
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    66. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. 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. PMID: 8784800.
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    67. Wang J, Dubowitz V, Lehmann-Horn F, Ricker K, Ptacek L, Hoffman EP. In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. Soc Gen Physiol Ser. 1995; 50:77-88. PMID: 7676326.
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    68. Sansone V, Rotondo G, Ptacek LJ, Meola G. 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. PMID: 7721550.
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    69. Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994 Aug; 44(8):1441-7. PMID: 8058146.
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    70. Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve. 1994 Jul; 17(7):763-8. PMID: 8008003.
      View in: PubMed
    71. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 Mar; 35(3):326-30. PMID: 8080508.
      View in: PubMed
    72. Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar; 33(3):300-7. PMID: 8388676.
      View in: PubMed
    73. Ptacek LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med. 1993 Feb 18; 328(7):482-9. PMID: 7678441.
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    74. Ptacek LJ, Ziter FA, Roberts JW, Leppert MF. Evidence of genetic heterogeneity among the nondystrophic myotonias. Neurology. 1992 May; 42(5):1046-8. PMID: 1315941.
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    75. Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb; 42(2):431-3. PMID: 1310531.
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