Physician’s Reading Room

Submitted by deb on Wed, 09/07/2011 – 03:04

For your convenience, arranged by topic, a “shelf” of journal articles on the periodic paralyses.

If you have a favorite link to suggest please pass it along.

Textbook and Reviews

Meola G, Hanna M G and Fontaine B. Diagnosis and Treatment of Muscle Channelopathies. J Neurol Neurosurg Psychiatry 2009;80:360–365.

Dr Michael Hanna, Dr Wojtek Rakowicz; Muscle ion channel diseases ACNR • VOLUME 3 NUMBER 1 MARCH/APRIL 2003.

Jurkat-Rott K, Lehmann-Horn F. State of the art in hereditary muscle channelopathies. Acta Myol. 2010 Oct;29(2):343-50.

Cherian A, Baheti NN, Kuruvilla A. Muscle channelopathies and electrophysiological approach. Ann Indian Acad Neurol. 2008 Jan;11(1):20-7.

Venance, S L; Cannon, S C; Fialho D; Fontaine, B; Hanna M G; Ptacek, L J; Tristani-Firouzi, M; Tawil, R;  Griggs R C and the CINCH investigators; The primary periodic paralyses: diagnosis, pathogenesis and treatment; Brain (2006), 129, 8–17

Cannon SC. Voltage-sensor mutations in channelopathies of skeletal muscle. J Physiol. 2010 Jun 1;588(Pt 11):1887-95. Epub 2010 Feb 15.

Reviews: Pharmacology, Anesthesia and Therapy

Depoix JP, Julliard JM, Aubry P.  Propofol-remifentanil target-controlled anesthesia in a patient with hyperkalemic familial periodic paralysis. Anesth Analg. 2004 Jul;99(1):302.

Tricarico D, Camerino DC. Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. Front Pharmacol. 2011;2:8. Epub 2011 Feb 28.

Weller JF, Elliott RA, Pronovost PJ. Spinal anesthesia for a patient with familial hyperkalemic periodic paralysis.  Anesthesiology. 2002 Jul;97(1):259-60.

HyperKPP:

Jurkat-Rott K, Lehmann-Horn F. Hyperkalemic Periodic Paralysis Type 1. Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews: University of Washington, Seattle; 1993-2003 Jul 18 [updated 2011 May 31].

Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS. Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.  J Clin Neurol. 2009 Dec;5(4):186-91. Epub 2009 Dec 31.

Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss of function. Pflugers Arch. 2010 Jul;460(2):239-48. Epub 2010 Mar 17.

Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol. 2009 Oct;22(5):524-31

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41.

Paramyotonia Congenita

Wang GK, Russell C, Wang SY. Mexiletine block of wild-type and inactivation-deficient human skeletal muscle hNav1.4 Na+ channels. J Physiol. 2004 Feb 1;554(Pt 3):621-33. Epub 2003 Nov 7.

Rajakulendran S, Tan SV, Matthews E, Tomlinson SE, Labrum R, Sud R, Kullmann DM, Schorge S, Hanna MG. A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. Neurology. 2009 Sep 22;73(12):993-5

Jarecki BW, Piekarz AD, Jackson JO 2nd, Cummins TR. Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. J Clin Invest. 2010 Jan 4;120(1):369-78. doi: 10.1172/JCI40801. Epub 2009 Dec 28.

Carle T, Fournier E, Sternberg D, Fontaine B, Tabti N. Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia. J Physiol. 2009 Apr 15;587(Pt 8):1705-14. Epub 2009 Feb 16.

Groome JR, Larsen MF, Coonts A. Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. Channels (Austin). 2008 Jan-Feb;2(1):39-50. Epub 2008 Apr 7.

Weber MA, Nielles-Vallespin S, Huttner HB, Wöhrle JC, Jurkat-Rott K, Lehmann-Horn F, Schad LR, Kauczor HU, Essig M, Meinck HM. Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness. Radiology. 2006 Aug;240(2):489-500. Epub 2006 Jun 14.

Kurihara T. New classification and treatment for myotonic disorders. Intern Med. 2005 Oct;44(10):1027-32.

Normokalemic PP

Feng Y, Zhang Y, Liu ZL, Zhang CD. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene. Chin Med J (Engl). 2008 Oct 5;121(19):1915-9.

Andersen-Tawil Syndrome:

(Abstract) Takahiro D, Takeru M, Takeshi M, Yoshisumi H, Keiko T, Seiko O, Masaharu A, Yoshiaki T, Takeshi K and Minoru H. A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome. Circulation: Cardiovascular Genetics 2011; 4: 253-260 

Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Ying-Hui F, Ptacek, LJ. Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome. December 19, 2003 The Journal of Biological Chemistry, 278, 51779-51785. 


Hoi-Fong C, Meng-Ling C, Jen-Jen S, Li-Chin K, Chin-Hsien L,3 and Ruey-Meei W. A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome. Journal of Human Genetics (2010), 1–3 & 2010 The Japan Society of Human Genetics

Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi M. Resuscitated sudden cardiac death in Andersen-Tawil syndrome. Heart Rhythm. 2009 Dec;6(12):1814-7. Epub 2009 Aug 29. PMID: 19959136 

Fox DJ, Klein GJ, Hahn A, Skanes AC, et. al. Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome. Europace. 2008 Aug;10(8):1006-8. Epub 2008 Jul 11. 

Tawil R, Venance SL. Andersen-Tawil Syndrome. Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2004 Nov 22 [updated 2010 May 13].

Sacconi S, Simkin D, Arrighi N, Chapon F, Larroque MM, Vicart S, Sternberg D, Fontaine B, Barhanin J, Desnuelle C, Bendahhou S. Mechanisms underlying Andersen’s syndrome pathology in skeletal muscle are revealed in human myotubes.  Am J Physiol Cell Physiol. 2009 Oct;297(4):C876-85. Epub 2009 Jul 1.

HypoKPP

Jurkat-Rott K, Weberb M-A, Faulera M, Guoa M-H, Holzherra BD, Paczulla A, Nordsborg N, Joechlec W, and Lehmann-Horn F. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. PNAS March 10, 2009 vol. 106 no. 10 4036-4041

Links TP, Zwarts MJ,  Wilmink JT, Molenaar WM and Oosterhuis H. Permanent Muscle Weakness in Familial Hypokalemic Periodic Paralysis; Clinical Radiological and Pathological Aspects. Brain (1990), 113, 1873-1889

Sternberg D, Tabti N, Hainque B, Fontaine B. Hypokalemic Periodic Paralysis. Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-.2002 Apr 30 [updated 2009 Apr 28].

Matthews E, Hanna MG. Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?  J Physiol. 2010 Jun 1;588(Pt 11):1879-86. Epub 2010 Feb 1.

Sokolov S, Scheuer T, Catterall WA. Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations.  J Gen Physiol. 2010 Aug;136(2):225-36.

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.  Neuromuscul Disord. 2010 Mar;20(3):166-73. Epub 2010 Jan 18.

Kim JB, Lee GM, Kim SJ, Yoon DH, Lee YH. Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis. Neurol India. 2011 Jul-Aug;59(4):527-31.

Park YH, Kim JB. An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A. Korean J Pediatr. 2010 Oct;53(10):909-12. Epub 2010 Oct 31. 

Mouse Models:

Wu F, Mi W, Burns DK, Fu Y, Gray HF, Struyk AF, Cannon SC.  A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.  J Clin Invest. 2011 Sep 1.

Wu F, Mi W, Hernández-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF and Cannon SC. A calcium channel mutant mouse model of hypokalemic periodic paralysis; The Journal of Clinical Investigation, Volume 122, Number 12, pp 4580-4591, December 2012

HypoKPP Diagnostic Testing:

HIGHLY RECOMMENDED:

Lin SH, Lin YF, Chen DT, Chu P, Hsu CW, Halperin ML.  Laboratory tests to determine the cause of hypokalemia and paralysis. Arch Intern Med. 2004 Jul 26;164(14):1561-6.

Lin SH, Yang SS, Chau T., A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010 Jun;8(1):38-50. Epub 2010 Jun 30.

Assadi F. Diagnosis of hypokalemia: a problem-solving approach to clinical cases. Iran J Kidney Dis. 2008 Jul;2(3):115-22. 

Thyrotoxic Hypokalemic PP

Rolim AL, Lindsey SC, Kunii IS, Fujikawa AM, Soares FA, Chiamolera MI, Maciel RM, Silva MR.  Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):673-81.

Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptácek LJ. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell . 2010 Jan 8;140(1):88-98.

Joshi AN, Jain AP, Bhatt AD, Kumar S. A case of sporadic periodic hypokalemic paralysis with atypical features: recurrent differential right brachial weakness and cognitive dysfunction. Neurol India. 2009 Jul-Aug;57(4):501.