The Gamstorp Periodic Paralysis News Service

tag:blogger.com,1999:blog-30542867995025564602011-06-07T23:17:09.198-07:00The Gamstorp Periodic Paralysis News ServiceCurrent scientific abstracts and relevant news related to Periodic Paralysis research gathered by dedicated volunteers.The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.comBlogger171100tag:blogger.com,1999:blog-3054286799502556460.post-38894775081748606552007-06-05T10:22:00.001-07:002008-12-08T21:35:38.816-08:00Funny toes and pointed ears

Sometimes seen in the periodic paralyses. Click picture for larger image.

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-74049188755039494222007-05-30T17:05:00.000-07:002007-05-30T17:08:29.993-07:00Na+ Channelopathy with Heat-Induced Myotonia and Cold-Induced Paralysis

Neurology. 2000 Jun 13;54(11):2179-81. Temperature-sensitive sodium channelopathy with heat-induced myotonia andcold-induced paralysis.Sugiura Y, Aoki T, Sugiyama Y, Hida C, Ogata M, Yamamoto T.Department of Neurology, Fukushima Medical University School of Medicine,Fukushima, Japan.The authors report a Japanese family with dominantly inherited heat-induced myotonia and cold-induced paralysis

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-89182635479548867212007-05-27T11:33:00.001-07:002007-05-27T11:39:40.602-07:00Functional and clinical characterization of KCNJ2 mutations associated with LQT7

J Clin Invest. 2002 Aug;110(3):381-8. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).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.Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah 84112, USA.Andersen syndrome (AS)

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-5081265831205999862007-05-01T14:39:00.000-07:002007-05-01T14:44:41.313-07:00HypoKPP: a model for a clinical and research approach to

Neurotherapeutics. 2007 Apr;4(2):225-32.Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Fontaine B, Fournier E, Sternberg D, Vicart S, Tabti N.Institut National de la Sante et de la Recherche Medicale (INSERM), UMR S546, Paris, France; Universite Pierre et Marie Curie Paris 6, UHR SS46, Paris, France.Rare diseases have attracted little attention in

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-65395180922987079202007-04-28T15:12:00.000-07:002007-04-28T15:25:36.123-07:00Regarding Women of a Certain Age

Outcomes in Cases of Chronic Disseminated Lyme Disease for Three Infected Physicians, Described in Their Own Essays, Published in Peer Reviewed JournalsVirginia T. Sherr, MD13th International Scientific Conference on Lyme Disease and Other Tick-Borne DisordersEmphasis: Pediatrics & New ResearchHartford Marriott Farmington, CT 24–-26 March 2000In 1972, a Swedish pediatric neurologist, 46-year-old

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-48719913047806283542007-04-28T13:06:00.000-07:002007-04-28T13:14:46.410-07:00Swimming-triggered aborted sudden cardiac death in a patient with ATS

Int J Cardiol. 2006 Sep 20;112(2):e45-7. Epub 2006 Jul 21. Swimming-triggered aborted sudden cardiac death in a patient with Andersen-Tawil syndrome.Efremidis M, Pappas LK, Sideris A, Letsas KP, Gavrielatos GD, Kardaras F.In this report we describe the case of a 42-year-old woman who experienced an episode of near drowning during recreational swimming. A diagnosis of Andersen-Tawil syndrome was

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-31041829801306901662007-04-26T20:46:00.000-07:002007-04-26T20:49:34.144-07:00Progressive myopathy in hyperkalemic periodic paralysis

Arch Neurol. 1990 Sep;47(9):1013-7.Progressive myopathy in hyperkalemic periodic paralysis.Bradley WG, Taylor R, Rice DR, Hausmanowa-Petruzewicz I, Adelman LS, Jenkison M, Jedrzejowska H, Drac H, Pendlebury WW.Department of Neurology, University of Vermont School of Medicine, Medical Center Hospital, Burlington 05405.A progressive degenerative myopathy has been well described in hypokalemic

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-33334673249237351712007-04-26T20:36:00.000-07:002007-04-26T20:40:43.484-07:00Thyrotoxic normokalemic periodic paralysis

Am J Emerg Med. 2003 Jan;21(1):71-3.An unrecognized cause of paralysis in ED: thyrotoxic normokalemic periodic paralysis.Wu CC, Chau T, Chang CJ, Lin SH.Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.Hypokalemic paralysis associated with hyperthyroidism (TPP) is a well-known acute electrolyte and muscle function

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-10169201129870613742007-04-22T00:48:00.000-07:002007-04-22T00:52:39.043-07:00The Nondystrophic Myotonias

Neurotherapeutics. 2007 Apr;4(2):238-51.The nondystrophic myotonias.Heatwole CR, Moxley RT 3rd.Department of Neurology, University of Rochester, Rochester, New York.The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-26800287750267648492007-04-17T16:57:00.000-07:002007-04-17T17:01:15.255-07:00HypoKPP in an African Family

Neuromuscul Disord. 2007 Apr 4; [Epub ahead of print]Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG.UFR de Neurologie, Faculte des Sciences de la Sante, Cotonou, Benin.Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-76924523516361764882007-04-17T16:45:00.000-07:002007-04-17T16:49:30.610-07:00Management and Treatment of ATS

Neurotherapeutics. 2007 Apr;4(2):233-7.Management and Treatment of Andersen-Tawil Syndrome (ATS).Sansone V, Tawil R.Department of Neurology, University of Milan, IRCCS Policlinico San Donato,Milan, Italy 20097.Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-78648771687016764072007-04-16T06:41:00.000-07:002007-04-16T06:56:49.332-07:00Genetics and Andersen-Tawil Syndrome

Andersen-Tawil Syndrome (ATS) is a less common form of Periodic Paralysis that may include flaccid paralysis or weakness, plus heart rhythm problems, fainting spells, small stature, webbed fingers or toes and blood potassium levels that usually (but not always) fall during attacks. An article titled Andersen-Tawil Syndrome, written by Drs. Rabi Tawil and Shannon Vance and published at

Rodney Robbinsnoreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-57817419869375310652007-04-06T14:41:00.000-07:002007-04-06T14:49:15.801-07:00Correlating phenotype & genotype in the periodic paralyses

Neurology. 2004 Nov 9;63(9):1647-55.Comment in: Neurology. 2004 Nov 9;63(9):E17-8.Correlating phenotype and genotype in the periodic paralyses.Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptacek LJ.Dept of Neurology, University of California San Francisco 94143-2922, USA.BACKGROUND:

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-56700431506236869842007-04-06T12:22:00.000-07:002007-04-06T12:28:43.508-07:00Genotype-Phenotype Correlation & Therapy in HyperKPP

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.Neurotherapeutics. 2007 Apr;4(2):216-24.Jurkat-Rott K, Lehmann-Horn F.Department of Applied Physiology, Ulm University, Ulm, Germany.Familial hyperkalemic periodic paralysis (PP) is a dominantly inherited muscle disease characterized by attacks of flaccid weakness and intermittent myotonia. Some patients

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-20779512113355753272007-04-05T21:11:00.000-07:002007-04-05T21:16:33.050-07:00Hypokalemia and Paralysis

Hypokalemia and Paralysis; Q J Med 2001; 94: 133-139; S.-H. Lin, Y.-F. Lin and M.L. HalperinIt is not uncommon for patients to present to the emergency room with severe weakness and a markedly low plasma potassium concentration. We attempted to identify useful clues to the diagnosis of hypokalaemic periodic paralysis, because its acute treatment aims are unique.

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-22451956163014734352007-04-05T20:07:00.000-07:002007-04-05T21:25:28.412-07:00Treatment of Hyperkalemia

From Neurology Rounds, April 2001; Vol 2; Issue 4. Authors Charles C-Y Wei and Kamel Kamel discuss the therapeutic options for treating Hyperkalemia. Controversies in the Treatment of Hyperkalemia

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0tag:blogger.com,1999:blog-3054286799502556460.post-3570494320411654892007-04-04T20:44:00.000-07:002007-04-05T13:05:47.178-07:00HypoKPP: Gating of the HypoPP-1 mutations

Pflugers Arch. 2007 Feb 27; [Epub ahead of print]Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity.Kuzmenkin A, Hang C, Kuzmenkina E, Jurkat-Rott K.Department of Applied Physiology, University of Ulm, 89081, Ulm, Germany,karin.jurkat-rott@uni-ulm.de.Hypokalemic periodic paralysis type 1 (HypoPP-1) is a hereditary muscular disorder caused by point mutations in the gene

The News Teamhttp://www.blogger.com/profile/03889939577237002419noreply@blogger.com0