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We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments.

ying-hui fu's & louis ptáček's

louis j. ptáček, m.d.

Investigator, Howard Hughes Medical Institute

John C. Coleman Distinguished Professorship in Neurodegenerative Diseases

Professor, Department of Neurology

School of Medicine

University of California San Francisco
Fu & Ptáček Laboratories
1550 Fourth St.
Room 548F, MC 2922
San Francisco, CA 94158-2324
USA
Phone: +1.415.502.5614
Fax: +1.415.502.5641
email: ljp@ucsf.edu

EDUCATION

 LICENSURES, CERTIFICATIONS, ETC.

EMPLOYMENT

Principal Positions Held

Ancillary Positions Held

PROFESSIONAL ACTIVITIES

Work for Professional Societies

SERVICE TO PROFESSIONAL PUBLICATIONS

TEACHING

PhD Candidates Supervised or mentored

Postdoctoral Fellows Supervised or mentored

KEYWORDS/AREAS OF INTEREST: Circadian rhythm, Sleep disorders, Multiple Sclerosis, Leukodystrophy, Polyglutamine disorders, Epilepsy, Migraine.

RESEARCH PROGRAM

The work in my laboratory has focused on studying clinical phenotypes in families to map and clone the genes responsible for various diseases. One focus of such work is episodic neurological diseases. This interest grew out of the mapping and cloning of a number of genes causing periodic paralysis and non-dystrophic myotonia, symptoms that we proposed as a model for other electrical disorders such as cardiac dysrhythmias, epilepsy, and migraine headache. The genes that we've cloned all encode ion channels that are responsible for regulating selective permeability of muscle membranes to various ions. This group of disorders was termed "channelopathies" and has come to encompass not only these muscle diseases but also cardiac arrhythmias, epilepsy, and some migraine phenotypes. We have gone on to study the protein products encoded by these genes using cellular electrophysiology. These experiments are useful in proving functional consequences of disease-causing mutations and to a general understanding of the structure/function relationship of these channels. Efforts in this group of disorders are expanding into disorders of the central nervous system, including epilepsy and migraine headache.

Approximately seven years ago we identified the first human families with a Mendelian circadian rhythm variant. These individuals have an extreme "morning lark" phenotype and we call this variant familial advanced sleep phase syndrome (FASPS). We have gone from the clinical and physiologic characterization of this phenotype to the mapping and cloning of the two causative genes and biochemical study of the encoded proteins. In addition, we have collected a large group of families with FASPS and other circadian sleep disorders, and these are being studied to identify additional human circadian rhythm genes. This work has been done in close collaboration with Chris Jones at the University of Utah and Ying-Hui Fu at UCSF.

Finally, we identified a model of spinocerebellar ataxia some years ago because of the uniform finding of sensory axonal neuropathy in all affected individuals. We have extensively characterized the clinical phenotype. In addition, we did extensive clinical characterization of a recognized SCA, called SCA7, in which retinal degeneration is a hallmark. My colleague, Dr. Ying-Hui Fu, has led the effort to clone the genes for these disorders as well as several other hereditary neurodegenerative syndromes. Insights into the proteins causing these disorders will ultimately lead to new insights into hereditary neurodegeneration and, hopefully, new therapies for treating neurodegenerative diseases.

CLINICAL RESEARCH PROGRAM

All of the genetic work that we do begins in families with hereditary neurological disorders. We have characterized new clinical phenotypes such as FASPS and SCA4 (see above) and done defining clinical characterization for other disorders such as autosomal dominant leukodystrophy, SCA7, and Andersen-Tawil syndrome. In addition, genetic characterization of some of these disorders has resulted in clinical trials that have been led by collaborators with expertise in experimental therapeutics. Our database of patients has provided an important resource for participating in clinical trials being led by our collaborators.

PEER REVIEWED PUBLICATIONS

1. Ptáček LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet. 1991;49:378-82.

2. Ptáček LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991;49:851-4.

3. Ptáček LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991;67:1021-7.

4. Ptáček LJ, Tawil R, Griggs RC, Storvick D, Leppert MF. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992;42:431-3.

5. Ptáček LJ, Ziter FA, Roberts JW, Leppert MF. Evidence of genetic heterogeneity among the non-dystrophic myotonias. Neurology. 1992;42:1046-8.

6. Ptáček LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992;8:891-7.

7. Ptáček LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, George AL, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993;33:300-7.

8. Cummins TR, Zhou J, Sigworth FJ, Ukomadu C, Stephan M, Ptáček LJ, Agnew WS. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron. 1993;10:667-78.

9. Tawil R, Ptáček 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;35:326-30.

10. Ptáček LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994;77:863-8.

11. Jackson CE, Barohn RJ, Ptáček LJ. Paramyotonia congenita: abnormal short-exercise test, and improvement after mexiletine therapy. Muscle Nerve. 1994;17:763-8.

12. Gouw LG, Digre KB, Harris CP, Haines JH, Ptáček LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994;44:1441-7.

13. Ptáček LJ, Tawil R, Griggs RC,  Meola G, McManis P, Mendell JR, Harris C, Spitzer R, Santiago F, Barohn R, Leppert MF. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994;44:1500-3.

14. Yang N, Ji S, Zhou M, Ptáček LJ, Barchi RL, Horn R, George AL. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA. 1994;91:12785-9.

15. Sansone V, Rotondo G, Ptáček LJ, Meola G. Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family: description of an Italian kindred. Ital J Neurol Sci. 1994;15:473-80.

16. Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutlege SL, Matilla A, Leppert M, Zoghbi HY, Ptáček LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995;10:89-93.

17. Ptáček LJ. Autosomal dominant spinocerebellar atrophy with retinal degeneration. Clin Neurosci. 1995;3:28-32.

18. Meola G, Sansone V, Radice S, Skradski S, Ptáček LJ. 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;6:143-50.

19. Fouad GT, Servidei S, Durcan S, Bertini E, Ptáček LJ. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet. 1996;59:135-9.

20. Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptáček LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996;59:392-9.

21. Zhang J, George AL, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptáček LJ. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology. 1996;47:993-8.

22. Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptáček LJ, Anttinen A, Brice A, Schalling M. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996;6:965-71.

23. Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptáček LJ. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord. 1997;7:33-8.

24. Ptáček LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromuscul Disord. 1997;7:250-5.

25. Sansone V, Griggs RC, Meola G, Ptáček LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas J, Scott W, Ririe D, Tawil R. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol. 1997;42:305-12.

26. Gardner K, Barmada MM, Ptáček LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology. 1997;49:1231-8.

27. Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptáček LJ. Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol. 1998;43:143-8.

28. Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptáček LJ, Davis LE. Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. Neuropsychiatry Neuropsychol Behav Neurol. 1998;11:31-9.

29. Skradski SL, White HS, Ptáček LJ. Genetic mapping of a locus (Mass1) causing audiogenic seizures in mice. Genomics. 1998;49:188-92.

30. Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, F. Jeri RF, Ptáček LJ. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet. 1998;7:525-32.

31. Einum DD, Zhang J, Arneson PJ, Menon AG, Ptáček LJ. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1998;1:289-92.

32. Craig HD, Gunel M, Cepeda O, Johnson EW, Ptáček LJ, 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;7:1851-8.

33. Viscomi CM, Ptáček LJ, Dudley D. Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesth Analg. 1999;88:1081-2.

34. Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptáček LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 1999;58:34-40 .

35. Bendahhou S, Cummins TR, Kwieciński H, Waxman SG, Ptáček LJ. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans. J Physiol. 1999;518(Pt 2):337-44.

36. Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptáček LJ. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci. 1999;19:4762-71.

37. Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptáček LJ. Familial advanced sleep-phase syndrome: a short- period circadian rhythm variant in humans. Nat Med. 1999;5:1062-5.

38. Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptáček, LJ. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 1999;53:1180-3.

39. Zhang J, Bendahhou S, Sanguinetti MC, Ptáček LJ. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology. 2000;54:937-42.

40. Tawil R, McDermott MP, Brown R Jr, Shapiro BC, Ptáček LJ, McManis PG, Dalakis MC, Specter SA, Mendell JR, Hahn AF, Griggs RC. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol. 2000;47:46-53.

41. Zhang J, Sanguinetti MC, Kwieciński H, Ptáček LJ. Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. J Biol Chem. 2000;275:2999-3005.

42. Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptáček LJ, Fu Y-H. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet. 2000;9:787-93.

43. Bendahhou S, Cummins TR,  Hahn AF, Langlois S, Waxman SG, Ptáček LJ. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest.  2000;106:431-8.

44. Swoboda KJ, Soong BW, McKenna C, Brunt, ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptáček LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000;55:224-30.

45. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptáček LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001;104:217-31.

46. Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptáček LJ, Fu Y-H. An hPer2 phosphorylation site mutation in familial advanced sleep-phase syndrome. Science. 2001;291:1040-3.

47. Einum DD, Townsend JJ, Ptáček LJ, Fu, Y-H. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics. 2001;3:83-90.

48. Plaster, NM, Tawil R, Tristani-Firouze M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu Y-H, Ptáček LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105:511-19.

49. Skradski SL, Clark, AM, Jiang H, White HS, Fu Y-H, Ptáček LJ. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 2001;31:537-44.

50. La Spada AR, Fu Y-H, Sopher BL, Libby RT, Wang X, Li, LY, Einum DD,  Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptáček LJ, Chen S. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 2001;31:913-27.

51. Bendahhou S, Cummins TR, Griggs RC, Fu Y-H, Ptáček LJ. Sodium channel inactivation defects associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol. 2001;50:417-20.

52. Tammur J, Prades C, Arnould I, Rzhetsky A, Hutchinson A, Adachi M, Schuetz JD, Swoboda KJ, Ptáček LJ, Rosier M, Dean M, Allikmets R. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11and ABCC12, tandemly duplicated on chromosome 16q12. Gene. 2001;273:89-96.

53. Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptáček LJ, Fu Y-H. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum Mol Genet. 2001;10:2821-31.

54. Bendahhou S, Cummins TR, Kula RW, Fu Y-H, Ptáček LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology. 2002;58:1266-72.

55. Garden GA, Libby RT, Fu Y-H, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptáček 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;22:4897-905.

56. Einum DD, Clark AM, Townsend JJ, Ptáček LJ, Fu Y-H. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003;60:97-103.

57. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwieciński H, Fidzianska A, Plaster N, Fu YH, Ptáček LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110:381-8.

58. Nakayama J, Fu Y-H, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptáček LJ. A nonsense mutation of the mASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002;52:654-7.

59. Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptáček 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;12:41-50.

60. Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S,  Mozaffar T, Escolar DM, Fu Y-H, Ptáček LJ. PIP₂ binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003;60:1811-16.

61. 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 LJ, 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;73:1459-64.

62. Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu Y-H, Ptáček LJ. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. Vol. 2003;278:51779-85.

63. Bruno MK, Ravina B, Garraux G, Hallett M, Ptáček LJ, Singleton A,  Johnson J, Hanson M, Considine E, Gwinn-Hardy K. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004;19: 228-30.

64. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptáček LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation. Ann Neurol. 2004;55:884-7.

65. Donaldson MR, Yoon G, Fu Y-H, Ptáček LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004;36 Suppl 1:92-7.

66. Klein BD, Fu Y-H, Ptáček 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;62:13-25.

67. Miller TM, Dias da Silva MR, Miller HA, Kwieciński H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu Y-H, Ptáček LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004;63:1647-55.

68. Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwieciński 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 Y-H, Ptáček LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004;13:3161-70.

69. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen BF, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu Y-H, Ptáček LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280-7.

70. Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptáček LJ, Fu Y-H. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature. 2005;434:640-4.

71. Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu Y-H, 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;111:2720-6.

72. Johnson KR, Zheng QY, Weston MD, Ptáček LJ, Noben-Trauth K.
    The Mass1^frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics. 2005;85:582-90.

73. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptáček LJ, Gomez CM. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005;20:1405-12.

74. Klein BD, Fu Y-H, Ptáček, LJ, White HS. Auditory deficits associated with the Frings Mgr1 (Mass1) mutation in mice. Dev Neurosci. 2005;27:321-32.

75. Yoon G, Baggaley S, Bachetti P, Fu Y-H, Digre KB, Ptáček LJ. Clinic-based study of family history of vascular risk factors and migraine. J Headache Pain. 2005;6:412-6.

76. Liquori C, Berg M, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptáček L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential implications for a fourth CCM locus. Hum Mutat. 2006;27:118.

77. Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quintania L, Kramer JH, Miller BL, Fu YH, Ptáček LJ. Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006;140:312-21.

78. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptáček 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.

79. 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.

80. Seemann G, Sachse FB, Weiss D, Ptáček L, Tristani-Firouzi M. Modeling of IK1 mutations in human left ventricular myocytes and tissue. Am J Physiol Heart Circ Physiol. 2007 Jan;292(1):H549-59. Epub 2006 Aug 25.

81. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptáček LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3.

82. Liquori CL, Berg ML, Squitieri  F, Leedom TP, Ptáček LJ, 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. Epub 2006 Nov 14.

83. 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;128:59-70.

84. Freudenberg J, Fu YH, Ptáček LJ. Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 2007 Aug;8(3):159-68. Epub 2007 Feb 27.

85. Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptáček L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24;68(17):1382-9.

86. Freudenberg J, Fu YH, Ptáček LJ. Human recombination rates are increased around accelerated conserved regions--evidence for continued selection? Bioinformatics. 2007 Jun 15;23(12):1441-3. Epub 2007 Apr 26.

87. 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 L. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9.

88. Freudenberg J, Fu YH, Ptáček LJ. Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection? Eur J Hum Genet. 2007 Oct;15(10):1071-8. Epub 2007 Jun 13.

89. Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptáček 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. Epub 2007 Jul 23.

90. Pellizzón OA, Kalaizich L, Ptáček LJ, Tristani-Firouzi M, Gonzalez MD. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. J Cardiovasc Electrophysiol. 2007 Jul 27; [Epub ahead of print]

91. Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptáček LJ, Göbel H, Todt U, Kubisch C. Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147(1):37-41. Epub 2007 Aug 6

92. Dias da Silva MR, Miller TM, Kwieciński H, Fu YH, Ptáček LJ. Myotonia congenita: correlating CLCN1 gene mutations with phenotypes (submitted).

OTHER PUBLICATIONS

1. Griggs RC, Ptáček, LJ. The periodic paralyses. Hosp Pract. 1992;27:123-30, 136-7.

2. Ptáček LJ, Griggs RC. The periodic paralyses. In: Harrison's Textbook of Internal Medicine, 1992.

3. Ptáček LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Eng J Med. 1993;328:482-9.

4. Ptáček LJ. Ion channel shake-down. Nat Genetics. 1994;8:111-2.

5. Wang J, Dubowitz V, Lehmann-Horn F, Ricker K, Ptáček LJ, 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.

6. Ptáček LJ, Griggs RC. Familial periodic paralyses. In: The Molecular Biology of Membrane Transport Disorders, ed 3. Plenum, 1996, pp. 625-42.

7. Machkhas H, Ashizawa T, Ptáček LJ. Familial periodic paralysis. In: Current Neurology, vol. XVI. Mosby, 1996, pp. 65-92.

8. Ptáček LJ. Sodium channel disorders of muscle. In: Recent Advances in Clinical Neurophysiology, Elsevier Science BV, 1996, pp. 153-9.

9. Griggs RC, Tawil R, Brown RH, Shapiro BE, Ptáček LJ, McManis PG, Dalakas MC, Mendell JR, Hahn AF, McDermott MP. Implications of molecular defects for classification and treatment of periodic paralysis. In: Recent Advances in Clinical Neurophysiology, Elsevier Science BV, 1996, pp. 160-9.

10. Mendell J, Griggs RC, Ptáček LJ. Diseases of muscle. In: Harrison's Textbook of Internal Medicine, ed 14. McGraw-Hill, 1998, pp. 2473-83.

11. Ptáček LJ. The place of migraine as a channelopathy. Curr Opin Neurol. 1998;11:217-26.

12. Ptáček LJ. The familial periodic paralyses and nondystrophic myotonias. Am J Med. 1998;105:58-70.

13. Ptáček LJ. Channelopathies: Ion channels and paroxysmal disorders of the nervous system. In: Genetics of Focal Epilepsies, John Libbey, 1998, pp. 203-13.

14. Ptáček LJ., Gouw LG. Spinocerebellar ataxia 7. In: GeneClinics: Medical Genetics Knowledge Base, 1998.

15. Griggs RC, Ptáček LJ. Mutations of sodium channels in periodic paralysis: can they explain the disease and predict treatment? Neurology. 1999;52:1309-10.

16. Ptáček LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Dig Dis Sci. 1999;44:94S-96S.

17. Ptáček LJ. Ion channel diseases: episodic disorders of the nervous system. Semin Neurol. 1999;19:363-9.

18. Bhatia KP, Griggs RC, Ptáček LJ. Episodic movement disorders as channelopathies. Mov Disord. 2000;15:429-33.

19. waxman SG, Ptáček LJ. Chronic fatigue syndrome and channelopathies. Med Hypotheses. 2000;55:457.

20. Avanzini G, Richter A, Ptáček LJ. Abnormal ion channels function causing epilepsy and movement disorders in experimental models and human disease. In: Epilepsy and Movement Disorders, Cambridge University Press, 2000, pp. 203-14.

21. Fu Y-H, Abele M, Ptáček LJ. Spinocerebellar ataxia type 4. In: Handbook of Ataxia Disorders, Marcel Dekker, 2000, pp. 425-33.

22. Ptáček LJ. Ligand-gated ion channelopathies: mutations in different genes causing one disease. Neurology. 2000;55:1429-30.

23. Ptáček LJ, Bendahhou S. Ion channel disorders of muscle. In: Disorders of   Voluntary Muscle, 7th ed. 2001, pp. 604-35.

24. Jen J, Ptáček LJ. Channelopathies. In: Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, 2001, pp. 5223-38.

25. Ptáček LJ, Fu Y-H. Channelopathies: episodic disorders of the nervous system. Epilepsia, 2001;42 Suppl 5:35-43.

26. Ptáček LJ. Channelopathies: episodic disorders of the nervous system. Novartis Found Symp. 2002;241:87-104; discussion 104-8, 226-32.

27. Renner DR, Ptáček LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52.

28. Fu Y-H, Ptáček LJ. Spinocerebellar ataxia type 4. In: The Cerebellum and its Disorders, Cambridge University Press, 2002, pp. 440-4.

29. Ptáček LJ. Channelopathies: episodic disorders of the nervous system. In: Sodium Channels and Neuronal Hyperexcitability, John Wiley and Sons, 2002;87-108.

30. Avanzini G, Ptáček LJ. Epilepsies as channelopathies. In: Epilepsy and Movement Disorders,  Cambridge University Press, 2002, pp. 1-14.

31. Ptáček LJ, Fu Y-H. Molecular biology of episodic movement disorders. Adv Neurol. 2002;89:453-8.

32. Ptáček LJ. Channel surfing. J Clin Endocrinol Metab. 2002;87:4879-80.

33. Ptáček LJ, Fu Y-H. What's new in epilepsy genetics? Mol Psychiatry. 2003;8:463-5.

34. Renner DR, Tawil R, Tristani-Firouzi M, Ptáček LJ.  Andersen’s Syndrome and Kir2.1.  In: Inborn Errors of Development: The Molecular Basis of Clinical Disorders on Morphogenesis, Oxford University Press, 2004, pp. 1001-6, 1st ed.

35. Uyama E, Fu Y-H, Ptáček LJ. Familial adult-onset myoclonic epilepsy (FAME). Adv Neurol. 2005;95:281-8.

36. Ptáček LJ, Jones CR, Fu Y-H. Genetic approaches to human behavior. Methods of Enzymol. 2005;393:239-50.

37. Lenz R, Ptáček LJ. Channelopathies. In: Neurology in Clinical Practice, 4th ed. Butterworth-Heinemann, 2004, pp. 1847-66.

38. Ptáček LJ, Fu Y-H. Channels and disease: past, present, and future. Arch Neurol. 2004;61:1665-8.

39. Chyung AS, Ptáček LJ. Continuum - Neurogenetics. April 2005. Genetics of Epilepsy. 79-94.

40. Freudenberg J, Fu YH, Ptáček LJ. Approaching inherited disease on a genomic scale. Current Genomics, 2005 6:545-50.

41. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptáček LJ, Tristani-Firouzi M, Tawil R, Griggs RC. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006;129(Pt 1):8-17.

42. Ptáček LJ, Fu YH, Koeppen A. The dominant form of vanishing white matter-like leukoencephalopathy represents autosomal dominant leukodystrophy. Ann Neurol. 2006;59:434.

43. Caksen H, Ptáček LJ, Üner A, Fu YH, Erol M, Anlar Ömer, Yilmaz C, Güven AS. Report of a Turkish girl with Andersen-Tawil syndrome.  J Pediatr Neurol, 2006 (4) 279-82.

44. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Roger N Rosenberg (Author), Salvatore DiMauro (Editor), Henry L Paulson (Editor), Louis Ptácek (Editor), Eric J Nestler (Editor). Lippincott Williams & Wilkins; Nov 2007, , 4^th ed.

45. Kerchner GA, Lenz RA, Ptáček LJ. Chapter 68: Episodic and Electrical Disorders of the Nervous System. In: Neurology in Clinical Practice, Butterworth-Heinemann; Dec 2007, pp. 1799-820, 5^th ed.

circadian rhythm & sleep   |   episodic diseases   |   neurodegeneration

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