Louis Ptacek, MD
Professor
Neurology
School of Medicine

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.

• Episodic disorders: channelopathies and beyond.
  Annual review of physiology 2015 Ptácek LJ
• Genetics of human sleep behavioral phenotypes.
  Methods in enzymology 2014 Hsu PK, Ptácek LJ, Fu YH
• Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
  Muscle & nerve 2014 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
• Episodic and electrical nervous system disorders caused by nonchannel genes.
  Annual review of physiology 2014 Lee HY, Fu YH, Ptácek LJ
• Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.
  Translational neurodegeneration 2014 Lin ST, Heng MY, Ptácek LJ, Fu YH
• Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C.
  Proceedings of the National Academy of Sciences of the United States of America 2013 Shin D, Lin ST, Fu YH, Ptácek LJ
• MicroRNA-23a promotes myelination in the central nervous system.
  Proceedings of the National Academy of Sciences of the United States of America 2013 Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH
• Solving the mystery of human sleep schedules one mutation at a time.
  Critical reviews in biochemistry and molecular biology 2013 Hallows WC, Ptácek LJ, Fu YH
• Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function.
  Current opinion in neurobiology 2013 Kurien PA, Chong SY, Ptácek LJ, Fu YH
• Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
  The Journal of clinical investigation 2013 Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptácek LJ, Fu YH
• Casein kinase iδ mutations in familial migraine and advanced sleep phase.
  Science translational medicine 2013 Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptácek LJ
• Episodic neurologic disorders: syndromes, genes, and mechanisms.
  Annual review of neuroscience 2013 Russell JF, Fu YH, Ptácek LJ
• Dual roles of FBXL3 in the mammalian circadian feedback loops are important for period determination and robustness of the clock.
  Proceedings of the National Academy of Sciences of the United States of America 2013 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
• Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock.
  Cell metabolism 2013 Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptácek LJ, Fu YH
• Diversity of human clock genotypes and consequences.
  Progress in molecular biology and translational science 2013 Zhang L, Ptácek LJ, Fu YH
• PKCγ participates in food entrainment by regulating BMAL1.
  Proceedings of the National Academy of Sciences of the United States of America 2012 Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptácek LJ
• PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
  Neurology 2012 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, …
• An inwardly rectifying K+ channel is required for patterning.
  Development (Cambridge, England) 2012 Dahal GR, Rawson J, Gassaway B, Kwok B, Tong Y, Ptácek LJ, Bates E
• Genetic insights on sleep schedules: this time, it's PERsonal.
  Trends in genetics : TIG 2012 Chong SY, Ptácek LJ, Fu YH
• Familial cortical myoclonus with a mutation in NOL3.
  Annals of neurology 2012 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 …
• Genetic basis of human circadian rhythm disorders.
  Experimental neurology 2012 Jones CR, Huang AL, Ptácek LJ, Fu YH
• miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin.
  Neuroscience 2012 Shin D, Howng SY, Ptácek LJ, Fu YH
• Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock.
  PloS one 2012 Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptácek LJ, Fu YH
• Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
  The Journal of clinical investigation 2012 Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ
• Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
  Cell reports 2011 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, …
• Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate.
  The Journal of biological chemistry 2011 Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu YH, Ptacek LJ, Yamamoto KR, Feldman BJ
• The genetics of the human circadian clock.
  Advances in genetics 2011 Zhang L, Jones CR, Ptacek LJ, Fu YH
• Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
  Epileptic disorders : international epilepsy journal with videotape 2010 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
• In memoriam: Louis John Ptácek, Sr, MD (1929-2006).
  Journal of child neurology 2009 Ptácek LJ
• Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred.
  European neurology 2008 Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H
• Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation.
  The Journal of biological chemistry 2007 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
• FAME 3: a novel form of progressive myoclonus and epilepsy.
  Neurology 2007 Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L
• Deletions in CCM2 are a common cause of cerebral cavernous malformations.
  American journal of human genetics 2006 Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA
• 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.
  European journal of human genetics : EJHG 2006 Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA
• Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
  Human mutation 2006 Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA
• Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
  Movement disorders : official journal of the Movement Disorder Society 2005 Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM
• The primary periodic paralyses: diagnosis, pathogenesis and treatment.
  Brain : a journal of neurology 2005 Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC, CINCH investigators
• Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
  Circulation 2005 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
• The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.
  Genomics 2005 Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K
• Auditory deficits associated with the frings mgr1 (mass1) mutation in mice.
  Developmental neuroscience 2005 Klein BD, Fu YH, Ptacek LJ, White HS
• Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
  Neurology 2004 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
• c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse.
  Epilepsy research 2004 Klein BD, Fu YH, Ptacek LJ, White HS
• Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
  Annals of neurology 2004 Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S
• Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.
  Movement disorders : official journal of the Movement Disorder Society 2004 Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K
• Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.
  Annals of medicine 2004 Donaldson MR, Yoon G, Fu YH, Ptacek LJ
• Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
  American journal of human genetics 2003 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, …
• A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.
  Archives of neurology 2003 Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH
• Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.
  Human molecular genetics 2003 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
• Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
  The Journal of clinical investigation 2002 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
• Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2002 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
• Channelopathies: episodic disorders of the nervous system.
  Novartis Foundation symposium 2002 Ptacek L
• Channelopathies: episodic disorders of the nervous system.
  Epilepsia 2001 Ptacek LJ, Fu YH
• Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis.
  Annals of neurology 2000 Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC
• Anesthetic management of familial hypokalemic periodic paralysis during parturition.
  Anesthesia and analgesia 1999 Viscomi CM, Ptacek LJ, Dudley D
• Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
  Human molecular genetics 1998 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
• Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease.
  Neurogenetics 1998 Einum DD, Zhang J, Arneson PJ, Menon AG, Ptacek LJ
• Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family.
  Neuropsychiatry, neuropsychology, and behavioral neurology 1998 Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptacek LJ, Davis LE
• A new locus for hemiplegic migraine maps to chromosome 1q31.
  Neurology 1997 Gardner K, Barmada MM, Ptacek LJ, Hoffman EP
• An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
  Genome research 1996 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
• A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.
  Neuromuscular disorders : NMD 1996 Meola G, Sansone V, Radice S, Skradski S, Ptacek L
• Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.
  Italian journal of neurological sciences 1994 Sansone V, Rotondo G, Ptacek LJ, Meola G
• Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.
  Neurology 1994 Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ
• Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy.
  Muscle & nerve 1994 Jackson CE, Barohn RJ, Ptacek LJ
• Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.
  Annals of neurology 1994 Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC
• Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
  Annals of neurology 1993 Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL, Barchi RL, Robertson M, Leppert MF
• Genetics and physiology of the myotonic muscle disorders.
  The New England journal of medicine 1993 Ptacek LJ, Johnson KJ, Griggs RC
• Evidence of genetic heterogeneity among the nondystrophic myotonias.
  Neurology 1992 Ptacek LJ, Ziter FA, Roberts JW, Leppert MF
• Linkage of atypical myotonia congenita to a sodium channel locus.
  Neurology 1992 Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M
• Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
  American journal of human genetics 1991 Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M
• Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.
  American journal of human genetics 1991 Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M
• Fetal anticonvulsant drug exposure: a population based study.
  Neurotoxicology 1986 Robertson LD, Swaiman KF, Ptacek LJ
• STROBOSCOPIC-INDUCED SEIZURE DISCHARGES. MODIFICATION BY EXTINCTION TECHNIQUES.
  Archives of neurology 1964 FORSTER FM, PTACEK LJ, PETERSON WG, CHUN RW, BENGZON AR, CAMPOS GB