L J Ptacek

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
    N M Plaster
    Department of Human Genetics, University of Utah, Salt Lake City 84112, USA
    Neurology 53:1180-3. 1999
  2. ncbi request reprint Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
    L J Ptacek
    Department of Neurology, University of Utah, Salt Lake City 84112, USA
    Neuromuscul Disord 7:250-5. 1997
  3. ncbi request reprint What's new in epilepsy genetics?
    Louis J Ptacek
    Departments of Neurology and Human Genetics, Howard Hughes Medical Institute, University of Utah, UT 84112, USA
    Mol Psychiatry 8:463-5. 2003
  4. pmc Modeling of a human circadian mutation yields insights into clock regulation by PER2
    Y Xu
    Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA
    Cell 128:59-70. 2007
  5. pmc Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans
    S Bendahhou
    Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    J Physiol 518:337-44. 1999
  6. ncbi request reprint PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
    M R Donaldson
    Department of Human Genetics and Molecular Biology, University of Utah, Salt Lake City, USA
    Neurology 60:1811-6. 2003
  7. doi request reprint Novel insights from genetic and molecular characterization of the human clock
    L J Ptacek
    Department of Neurology, University of California, San Francisco, California 94158 2324, USA
    Cold Spring Harb Symp Quant Biol 72:273-7. 2007
  8. ncbi request reprint Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
    S Bendahhou
    Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112, USA
    Neurology 58:1266-72. 2002
  9. ncbi request reprint Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
    K J Swoboda
    Department of Neurology, Human Genetics, Howard Hughes Medical Institute, Salt Lake City, UT, USA
    Neurology 55:224-30. 2000
  10. ncbi request reprint A novel gene causing a mendelian audiogenic mouse epilepsy
    S L Skradski
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Neuron 31:537-44. 2001

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
    N M Plaster
    Department of Human Genetics, University of Utah, Salt Lake City 84112, USA
    Neurology 53:1180-3. 1999
    ..To identify the genetic locus for the familial adult myoclonic epilepsy (FAME) gene...
  2. ncbi request reprint Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
    L J Ptacek
    Department of Neurology, University of Utah, Salt Lake City 84112, USA
    Neuromuscul Disord 7:250-5. 1997
    ....
  3. ncbi request reprint What's new in epilepsy genetics?
    Louis J Ptacek
    Departments of Neurology and Human Genetics, Howard Hughes Medical Institute, University of Utah, UT 84112, USA
    Mol Psychiatry 8:463-5. 2003
  4. pmc Modeling of a human circadian mutation yields insights into clock regulation by PER2
    Y Xu
    Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA
    Cell 128:59-70. 2007
    ..Altering CKIdelta dosage modulates the S662 phenotype demonstrating that CKIdelta can regulate period through PER2 in vivo. Modeling a naturally occurring human variant in mice has yielded novel insights into PER2 regulation...
  5. pmc Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans
    S Bendahhou
    Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    J Physiol 518:337-44. 1999
    ..5. These data show that the defects observed in the sodium channel function could well explain the onset of the paramyotonia congenita in this family and emphasize the role of segment S4 of domain IV in sodium channel inactivation...
  6. ncbi request reprint PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
    M R Donaldson
    Department of Human Genetics and Molecular Biology, University of Utah, Salt Lake City, USA
    Neurology 60:1811-6. 2003
    ..Although pathogenic mechanisms have been proposed for select mutations, a common mechanism has not been identified...
  7. doi request reprint Novel insights from genetic and molecular characterization of the human clock
    L J Ptacek
    Department of Neurology, University of California, San Francisco, California 94158 2324, USA
    Cold Spring Harb Symp Quant Biol 72:273-7. 2007
    ..It should also lead to new strategies for pharmacological manipulation of the human clock to improve the treatment of jet lag, various clock-related sleep and psychiatric disorders, and other human diseases...
  8. ncbi request reprint Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
    S Bendahhou
    Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112, USA
    Neurology 58:1266-72. 2002
    ..This article describes the clinical manifestations of a patient with hyperKPP carrying a mutation (L689I) occurring in the linker DIIS4-S5 and its functional expression in a mammalian system...
  9. ncbi request reprint Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
    K J Swoboda
    Department of Neurology, Human Genetics, Howard Hughes Medical Institute, Salt Lake City, UT, USA
    Neurology 55:224-30. 2000
    ..To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus...
  10. ncbi request reprint A novel gene causing a mendelian audiogenic mouse epilepsy
    S L Skradski
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Neuron 31:537-44. 2001
    ..Study of the MASS1 protein will lead to new insights into regulation of neuronal excitability and a new pathway through which dysfunction can lead to epilepsy...
  11. ncbi request reprint Localization of the giant axonal neuropathy gene to chromosome 16q24
    K M Flanigan
    Department of Neurology, University of Utah, Salt Lake City 84112, USA
    Ann Neurol 43:143-8. 1998
    ....
  12. ncbi request reprint Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    N M Plaster
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Cell 105:511-9. 2001
    ..1 cause Andersen's syndrome. These findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart...
  13. ncbi request reprint Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis
    S Bendahhou
    Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA
    Ann Neurol 50:417-20. 2001
    ..Our data may help explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acetazolamide...
  14. pmc Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1
    K Flanigan
    Department of Neurology, University of Utah Medical Center, Salt Lake City 84112, USA
    Am J Hum Genet 59:392-9. 1996
    ..93 at theta = .00). In addition, we present clinical and electrophysiological data regarding the distinct and previously unreported phenotype consisting of ataxia with the invariant presence of a prominent axonal sensory neuropathy...
  15. ncbi request reprint Ion channel diseases: episodic disorders of the nervous system
    L J Ptacek
    Howard Hughes Medical Institute, Department of Neurology, University of Utah, Salt Lake City 84112, USA
    Semin Neurol 19:363-9. 1999
    ....
  16. ncbi request reprint Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex
    A Matilla
    Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT 84112 5331, USA
    Hum Mol Genet 10:2821-31. 2001
    ..These results suggest a role for S4 and ubiquitin-mediated proteasomal proteolysis in the molecular pathogenesis of SCA7...
  17. pmc A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
    G T Fouad
    Department of Neurology, University of Utah School of Medicine, Salt Lake City 84112, USA
    Am J Hum Genet 59:135-9. 1996
    ..64, theta = 0). Identification of distinct genetic loci for the paroxysmal dyskinesias will lead to a new genetic classification and to better understanding of these disorders...
  18. ncbi request reprint Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
    M K Bruno
    Department of Neurology, University of California, San Francisco, CA 94143 2922, USA
    Neurology 63:2280-7. 2004
    ..Although a genetic basis is suspected in idiopathic cases, the gene has not been discovered. Establishing strict diagnostic criteria will help genetic studies...
  19. pmc miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin
    D Shin
    Department of Neurology, University of California San Francisco, 1550 Fourth Street, San Francisco, CA 94158, USA
    Neuroscience 213:29-37. 2012
    ..Taken together, our data suggest that miR-32 and its downstream target SLC45A3 play important roles in myelin maintenance by modulating glucose and lipid metabolism and myelin protein expression in oligodendrocytes...
  20. ncbi request reprint An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome
    K L Toh
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Science 291:1040-3. 2001
    ..Thus, a variant in human sleep behavior can be attributed to a missense mutation in a clock component, hPER2, which alters the circadian period...
  21. ncbi request reprint Genetic mapping of a locus (mass1) causing audiogenic seizures in mice
    S L Skradski
    Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA
    Genomics 49:188-92. 1998
    ..Linkage of mass1 to chromosome 13 is an important step in identifying the gene associated with a monogenic seizure disorder in mice, which may ultimately lead to a better understanding of the pathophysiology of human seizure disorders...
  22. doi request reprint Sumatriptan alleviates nitroglycerin-induced mechanical and thermal allodynia in mice
    E A Bates
    Department of Neurology, University of California, San Francisco, CA 94158, USA
    Cephalalgia 30:170-8. 2010
    ..We found that the threshold of CSD was unaffected by NTG, suggesting that NTG stimulates migraine mechanisms that are independent of the regulation of cortical excitability...