familial periodic paralyses

Summary

Summary: A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)

Top Publications

  1. Xiuhai G, Weiping W, Ke Z, Hongbin W, Yiling S, MaoYanling -. Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. Cell Mol Neurobiol. 2008;28:653-61 pubmed
    ..In this study, we aim to investigate the clinical features and Mutations of sodium channel alpha-subunit (SCN4A) genes in Chinese patients with normokalemic periodic paralysis (normoKPP)...
  2. Johnston J. The contribution of Dr. Mary Walker towards myasthenia gravis and periodic paralysis whilst working in poor law hospitals in London. J Hist Neurosci. 2005;14:121-37 pubmed
    ..Physostigmine (or Prostigmin) compensated for the lack of acetylcholine by delaying its destruction." Dr. Walker and colleagues also described the association between familial periodic paralysis and hypokalaemia. ..
  3. Hanna M, Stewart J, Schapira A, Wood N, Morgan Hughes J, Murray N. Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A). J Neurol Neurosurg Psychiatry. 1998;65:248-50 pubmed
    ..Treatment with beta-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications. ..
  4. Lim B, Kim G, Bae E, Noh C, Hwang H, Kim K, et al. Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. J Child Neurol. 2010;25:490-3 pubmed publisher
    ..Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies. ..
  5. Sokolov S, Scheuer T, Catterall W. Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. Proc Natl Acad Sci U S A. 2008;105:19980-5 pubmed publisher
  6. Shiang J, Cheng C, Tsai M, Hung Y, Hsu Y, Yang S, et al. Therapeutic analysis in Chinese patients with thyrotoxic periodic paralysis over 6 years. Eur J Endocrinol. 2009;161:911-6 pubmed publisher
  7. Jurkat Rott K, Lehmann Horn F. Paroxysmal muscle weakness: the familial periodic paralyses. J Neurol. 2006;253:1391-8 pubmed
    The familial periodic paralyses (PP) were commonly considered to be benign diseases since frequency and severity of the paralytic attacks decrease in adulthood...
  8. Arimura K, Arimura Y, Ng A, Sakoda S, Higuchi I. Muscle membrane excitability after exercise in thyrotoxic periodic paralysis and thyrotoxicosis without periodic paralysis. Muscle Nerve. 2007;36:784-8 pubmed
    ..Paralytic attacks in TPP patients are due primarily to a preexisting latent abnormal excitability of the muscle membrane, possibly genetic in origin. ..
  9. Feng Y, Zhang Y, Liu Z, Zhang C. 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;121:1915-9 pubmed
    ..According to different response patterns, the ET may also be helpful in reducing the scope of genetic screening. ..

More Information

Publications83

  1. Sloet van Oldruitenborgh Oosterbaan M. [HYPP: hyperkalemic periodic paralysis in the horse]. Tijdschr Diergeneeskd. 1999;124:176-81 pubmed
    ..The present article reviews the literature on HYPP and describes a case showing typical signs of the disease. ..
  2. Plaster N, Tawil R, Tristani Firouzi M, Canún S, Bendahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105:511-9 pubmed
    ..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. ..
  3. Takahashi M, Cannon S. Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel. J Physiol. 2001;537:701-14 pubmed
  4. Ryan M, Taylor P, Donald J, Ouvrier R, Morgan G, Danta G, et al. A novel syndrome of episodic muscle weakness maps to xp22.3. Am J Hum Genet. 1999;65:1104-13 pubmed
    ..We have localized the responsible gene to chromosome Xp22.3, with a maximum two-point LOD score of 4. 52 at a recombination fraction of.0, between OACA2 and DXS9985. ..
  5. Boerman R, Ophoff R, Links T, van Eijk R, Sandkuijl L, Elbaz A, et al. Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. J Med Genet. 1995;32:44-7 pubmed
    ..A previously reported G to A mutation causing an arginine to histidine substitution at residue 528 in the transmembrane segment IIS4 of the CACLN1A3 gene was shown in patients by restriction analysis of genomic PCR products. ..
  6. Ptacek L. Ion channel shake-down. Nat Genet. 1994;8:111-2 pubmed
  7. Rao V, Seetharam R, Radhakrishna H. A case report of familial periodic paralysis. J Indian Med Assoc. 2007;105:336, 339 pubmed
    ..2 meq/l during attack and 3.4 meq/l after the attack. He was treated with oral acetazolamide and potassium chloride. The case was diagnosed to be familial periodic paralysis belonged to the group 'episodic myasthenia'. ..
  8. McClatchey A, McKenna Yasek D, Cros D, Worthen H, Kuncl R, DeSilva S, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 1992;2:148-52 pubmed
    ..Mutations in SCN4A can produce a broad range of phenotypes in muscle diseases characterized by episodic abnormalities of membrane excitability. ..
  9. Yudkowsky M, Beech J, Fletcher J. Phenytoin alters transcript levels of hormone-sensitive lipase in muscle from horses with hyperkalemic periodic paralysis. Arch Biochem Biophys. 1998;358:264-70 pubmed
    ..These results suggest that the primary defect in HyperPP may secondarily decrease HSL transcript levels and that the therapeutic action of phenytoin may include regulation of mRNA transcripts in skeletal muscle. ..
  10. Guo X, Wu W, Zhang Y, Wang H, Mao Y, Zhu K. [Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis]. Zhonghua Yi Xue Za Zhi. 2004;84:125-9 pubmed
    ..The mutation Met1592Val does exist in Chinese patients, and lead to normoKPP. NormoKPP is similar to hyperKPP not only in clinical futures but also in genetic level. ..
  11. Canún S, Perez N, Beirana L. Andersen syndrome autosomal dominant in three generations. Am J Med Genet. 1999;85:147-56 pubmed
    ..Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome. ..
  12. Platt D, GRIGGS R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol. 2009;22:524-31 pubmed publisher
    ..Recent studies have expanded our understanding of gating pore current as a disease-causing mechanism in the muscle channelopathies and have allowed new correlations to be drawn between disease genotype and phenotype. ..
  13. Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990;250:1000-2 pubmed
    ..In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation. ..
  14. Tristani Firouzi M, Jensen J, Donaldson M, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110:381-8 pubmed
    ..These findings suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome...
  15. Bendahhou S, Cummins T, Tawil R, Waxman S, Ptacek L. 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 pubmed
  16. Ruggieri V, Arberas C. [Neuromuscular hereditary channelopathies: non-dystrophic myotonias, paramyotonias and periodic paralysis]. Rev Neurol. 2002;34:150-6 pubmed
    ..A channelopathy is a disorder due to anomalous function of the ionic channels...
  17. Goh S. Thyrotoxic periodic paralysis: reports of seven patients presenting with weakness in an Asian emergency department. Emerg Med J. 2002;19:78-9 pubmed
    ..This study was done to describe the features of thyrotoxic periodic paralysis in young Asian men...
  18. Jurkat Rott K, Lehmann Horn F. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. Neurology. 2004;62:1012-5 pubmed
  19. Au W, Lie A, Kung A, Mak W, Kwong Y. Thyrotoxic periodic paralysis after allogeneic haematopoietic stem cell transplantation. Br J Haematol. 2005;129:160-1 pubmed
  20. Islander G, Jungner M. [Anesthesia in hereditary peripheral muscular disease]. Lakartidningen. 2005;102:566-71 pubmed
  21. Meola G, Sansone V. Treatment in myotonia and periodic paralysis. Rev Neurol (Paris). 2004;160:S55-69 pubmed
  22. Wu C, Chau T, Chang C, Lin S. An unrecognized cause of paralysis in ED: thyrotoxic normokalemic periodic paralysis. Am J Emerg Med. 2003;21:71-3 pubmed
    ..Thyrotoxic normokalemic periodic paralysis (TNPP) should be kept in mind as a cause of acute muscle weakness to avoid missing a treatable and curable condition...
  23. Cannon S. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord. 2002;12:533-43 pubmed
    ..This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis...
  24. Morovic Vergles J, Galesic K, Vergles D. Primary Sjogren's syndrome presenting as hypokalemic paralysis. Ann Saudi Med. 2007;27:125-7 pubmed
  25. Abbott G, Butler M, Bendahhou S, Dalakas M, Ptacek L, Goldstein S. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001;104:217-31 pubmed
    ..Mutant MiRP2-Kv3.4 complexes exhibit reduced current density and diminished capacity to set RMP. Thus, MiRP2 operates with a classical potassium channel subunit to govern skeletal muscle function and pathophysiology...
  26. Schofield P. Genetics, an alternative way to discover, characterize and understand ion channels. Clin Exp Pharmacol Physiol. 2001;28:84-8 pubmed
    ..Understanding how ion channel gene mutations give rise to dysfunctional channels will be important in defining and treating the episodic and chronic channelopathies...
  27. Raja Rayan D, Hanna M. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 2010;23:466-76 pubmed publisher
    ..The aim is to review the recent findings in relation to the genetics, pathophysiology, clinical phenotypes, investigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses...
  28. Morrill J, Brown R, Cannon S. Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H. J Neurosci. 1998;18:10320-34 pubmed
    ..The R528H mutation had no effect on the kinetics or voltage dependence of inactivation...
  29. Barahona M, Vinagre I, Sojo L, Cubero J, Perez A. Thyrotoxic periodic paralysis: a case report and literature review. Clin Med Res. 2009;7:96-8 pubmed publisher
    ..Thyrotoxic periodic paralysis is a rare disorder, especially among Caucasians, but it should always be considered in patients with acute paralysis and hypokalemia, and thyroid function should be evaluated...
  30. Hogan K, Powers P, Gregg R. Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics. 1994;24:608-9 pubmed
  31. Fontaine B. Periodic paralysis. Adv Genet. 2008;63:3-23 pubmed publisher
    ..The understanding of the genetics and pathophysiology of periodic paralysis has contributed to refine and rationalize therapeutic intervention and will be without doubts the basis of further advances...
  32. Ricker K, Camacho L, Grafe P, Lehmann Horn F, Rudel R. Adynamia episodica hereditaria: what causes the weakness?. Muscle Nerve. 1989;12:883-91 pubmed
    ..These findings also provide evidence that the mechanism of cold-induced weakness in adynamia episodica is distinctly different from the cold-induced weakness that occurs in paramyotonia congenita...
  33. Cannon S, Hayward L, Beech J, Brown R. Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis. J Neurophysiol. 1995;73:1892-9 pubmed
    ..4. The persistent Na current was produced by a distinct mode of gating. Failure of a mutant channel to inactivate was infrequent and occurred in groups of consecutive trials.(ABSTRACT TRUNCATED AT 250 WORDS)..
  34. Ptacek L, Trimmer J, Agnew W, Roberts J, Petajan J, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991;49:851-4 pubmed
    ..Furthermore, this is strong evidence for the hypothesis that PC and HYPP are allelic disorders...
  35. Klouche K, Bismuth J, Lechiche C, Massanet P, Fesler P, Ribstein J, et al. [Thyreotoxic periodic paralysis. A cause of pseudo-paralysing hypokalemia that should not be ignored in Caucasians]. Presse Med. 2003;32:1213-5 pubmed
    ..Despite its rare occurrence in Caucasians, thyreotoxic periodic paralysis should be evoked in young male Caucasians presenting with episodes of pseudo-paralytic hypokalemia...
  36. Hsu Y, Lin Y, Chau T, Liou J, Kuo S, Lin S. Electrocardiographic manifestations in patients with thyrotoxic periodic paralysis. Am J Med Sci. 2003;326:128-32 pubmed
    ..Because the cardiovascular system is very sensitive to elevation of thyroid hormone, we hypothesize that electrocardiographic manifestations may aid in early diagnosis of TPP...
  37. Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 1991;354:387-9 pubmed
    ..This same change was found in a sporadic case of HYPP as a new mutation. We have therefore discovered a voltage-gated channel mutation responsible for a human genetic disease...
  38. Levitt J, Cochran P, Jankowiak J. Patient page. Attacks of immobility caused by diet or exercise? The mystery of periodic paralyses. Neurology. 2004;63:E17-8 pubmed
  39. Hudson A, Ebers G, Bulman D. The skeletal muscle sodium and chloride channel diseases. Brain. 1995;118 ( Pt 2):547-63 pubmed
  40. Campana Salort E. [Muscular disorders: unusual or focal presentations]. Rev Prat. 2008;58:2245-52 pubmed
    ..This paper reviews the main atypical clinical features of myopathies and their causes...
  41. Cannon S. Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Kidney Int. 2000;57:772-9 pubmed
    ..Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps...
  42. Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, et al. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007;28:208 pubmed
    ..In our study, all of the clinically diagnosed ATS patients had KCNJ2 mutations and showed a high penetrance with regard to the typical cardiac phenotypes: predominant U wave and ventricular arrhythmias, typically bidirectional VT...
  43. Hofer C, Zalunardo M, Zollinger A. Total intravenous anaesthesia in a patient with familial hypokalaemic periodic paralysis. Anaesthesia. 2001;56:1082-5 pubmed
    ..Despite continuous substitution, an episode of low plasma potassium concentration occurred during the recovery period; this was without any clinical signs of muscle paralysis or respiratory distress...
  44. Ricardo Pérez Riera A, Ferreira C, Dubner S, Schapachnik E. Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome. Ann Noninvasive Electrocardiol. 2004;9:175-9 pubmed
    ..1, resulting in a loss or suppression of the function of this channel...
  45. Sinharay R. Thyrotoxic periodic paralysis in western countries. Postgrad Med J. 2003;79:426 pubmed
  46. Lucet V, Lupoglazoff J, Fontaine B. [Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]. Arch Pediatr. 2002;9:1256-9 pubmed
    ..Recent advances in molecular genetic research have provided new insights into severe ventricular arrhythmias related to channelopathies...
  47. Chinnery P, Walls T, Hanna M, Bates D, Fawcett P. Normokalemic periodic paralysis revisited: does it exist?. Ann Neurol. 2002;52:251-2 pubmed
    ..We identified the Met1592Val mutation of SCN4A in an affected descendent of this original normoKPP family. This is the final piece in the puzzle: normoKPP is actually a variant of hyperKPP and is not a distinct disorder...
  48. Lindsay H, Baines R, ffrench Constant R, Lilley K, Jacobs H, O Dell K. The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic. Genetics. 2008;180:873-84 pubmed publisher
    ..Therefore, in the absence of suitable vertebrate models, Ocd provides a system in which genetic, molecular, physiological, and behavioral tools can be exploited to determine mechanisms underlying sodium channel periodic paralyses...
  49. Wu L, Wu W, Yan G, Wang X, Liu J. [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:629-32 pubmed
    ..To construct and investigate the cell model of a novel mutation R675Q in the skeletal muscle Na channel type 4 alpha subunit gene (SCN4A) identified from a Chinese family with normokalemic periodic paralysis...
  50. Jurkat Rott K, Lerche H, Weber Y, Lehmann Horn F. Hereditary channelopathies in neurology. Adv Exp Med Biol. 2010;686:305-34 pubmed publisher
    ..As more than 35% of marketed drugs target ion channels, there is a high chance to identify compounds that counteract the effects of the mutations...
  51. Satam N, More V, Shanbag P, Kalgutkar A. Fatal thyrotoxic periodic paralysis with normokalemia. Indian J Pediatr. 2007;74:1041-3 pubmed
    ..Post-mortem biopsy of the thyroid showed diffuse hyperplasia of the follicles and muscles showed evidence of thyroid myopathy...
  52. Junker J, Haverkamp W, Schulze Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology. 2002;59:466 pubmed
  53. Hisama F. Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. Arch Neurol. 2005;62:135-8 pubmed
    ..The underlying cause of their disease has been the subject of considerable speculation and has never been identified until now...
  54. Kung A, Lau K, Fong G, Chan V. Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis. J Clin Endocrinol Metab. 2004;89:1340-5 pubmed
    ..1 gene...
  55. Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation. 2002;105:2592-4 pubmed
    ..Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features...
  56. Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art J, et al. A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome. Proc Natl Acad Sci U S A. 2002;99:8430-5 pubmed
    ..R., Iannaccone, S. T., Brunt, E., Barohn, R., et al. (2001) Cell 105, 511-519]. Our interpretation is that this region of the glutamate residue is crucial in relaying the activating message from the ligand sensor region to the gate...
  57. Venance S, Cannon S, Fialho D, Fontaine B, Hanna M, Ptacek L, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006;129:8-17 pubmed
    ..Moreover, understanding the skeletal muscle channelopathies will hopefully lead to insights into the more common central nervous system channel diseases such as migraine and epilepsy...
  58. Desaphy J, De Luca A, Tortorella P, De Vito D, George A, Conte Camerino D. Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative. Neurology. 2001;57:1849-57 pubmed
    ..Myotonia and periodic paralysis caused by sodium channel mutations show variable responses to the anti-myotonic drug mexiletine...
  59. Jongsma H, Wilders R. Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol. 2001;11:R747-50 pubmed
    ..1, a major determinant of resting membrane potential. The clinical features of this disease illustrate the importance of a stable resting membrane potential for many cell functions...
  60. Katz J, Wolfe G, Iannaccone S, Bryan W, Barohn R. The exercise test in Andersen syndrome. Arch Neurol. 1999;56:352-6 pubmed
    ..To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition...
  61. Lehmann Horn F, Jurkat Rott K, Rüdel R. Periodic paralysis: understanding channelopathies. Curr Neurol Neurosci Rep. 2002;2:61-9 pubmed
    b>Familial periodic paralyses are typical channelopathies (i.e., caused by functional disturbances of ion channel proteins)...
  62. Rudolph J, Spier S, Byrns G, Hoffman E. Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. Anim Genet. 1992;23:241-50 pubmed
    ..The future identification of the specific sodium channel mutation causing HYPP in Quarter horses will permit the development of accurate molecular diagnostics of this condition, as has been recently shown for humans...
  63. Elbaz A, Vale Santos J, Jurkat Rott K, Lapie P, Ophoff R, Bady B, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Hum Genet. 1995;56:374-80 pubmed
  64. Hanna W, Tsushima R, Sah R, McCutcheon L, Marban E, Backx P. The equine periodic paralysis Na+ channel mutation alters molecular transitions between the open and inactivated states. J Physiol. 1996;497 ( Pt 2):349-64 pubmed
    ..5. These results suggest that the highly conserved cytoplasmic end of the third transmembrane segment (S3) in the fourth internal repeat domain (domain IV) plays a critical role in Na+ channel inactivation...
  65. Bulman D. Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet. 1997;6:1679-85 pubmed
    ..Some of these disorders are known to be caused by mutations in ion channel genes, while in the episodic movement disorders, ion channel genes are considered excellent candidate genes...
  66. Posada Rodríguez I, Gutierrez Rivas E, Cabello A. [Cardiac involvement in neuromuscular diseases]. Rev Esp Cardiol. 1997;50:882-901 pubmed
    ..In selected patients, more sophisticated biochemical and genetic analysis will be necessary. In most cases, endomyocardial biopsy is not essential for the diagnosis...
  67. Fontaine B. [Periodic paralysis: new pathophysiological aspects]. Bull Acad Natl Med. 2008;192:1543-8; discussion 1549-50 pubmed
    ..Work on the genetics and pathophysiology of periodic paralyses has helped to improve the diagnosis and management of these syndromes...
  68. Preisig Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S, et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A. 2002;99:7774-9 pubmed
    ..Our results suggest that differential tetramerization of the mutant allele of Kir2.1 with wild-type Kir2.1, Kir2.2, and Kir2.3 channels represents the molecular basis of the extraordinary pleiotropy of Andersen's syndrome...
  69. George A, Komisarof J, Kallen R, Barchi R. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol. 1992;31:131-7 pubmed
    ..This structural information should provide the necessary backdrop for identifying and evaluating mutations affecting the function of this channel in the periodic paralyses...
  70. Dixon A, Jones R. Thyrotoxic periodic paralysis in a white woman. Postgrad Med J. 2002;78:687-8 pubmed
    ..To the best of the authors' knowledge, and after a Medline search, thyrotoxic periodic paralysis has not been described previously in a white woman...
  71. Finsterer J. Primary periodic paralyses. Acta Neurol Scand. 2008;117:145-58 pubmed
    ..To review the current knowledge about primary periodic paralyses (PPs)...
  72. Wild E. Thyrotoxic periodic paralysis in a Maori patient. N Z Med J. 2004;117:U1204 pubmed
  73. Rudolph J, Spier S, Byrns G, Rojas C, Bernoco D, Hoffman E. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet. 1992;2:144-7 pubmed publisher
    ..This represents the first application of molecular genetics to an important horse disease, and the data will provide an opportunity for control or eradication of this condition...
  74. Rao N, John M, Thomas N, Rajaratnam S, Seshadri M. Aetiological, clinical and metabolic profile of hypokalaemic periodic paralysis in adults: a single-centre experience. Natl Med J India. 2006;19:246-9 pubmed
    ..Hypokalaemic periodic paralysis constitutes a heterogeneous group of disorders that present with acute muscular weakness. In this analysis, we discuss the aetiological factors that appear to be more common in the Indian population...