Neurological channelopathies: Diagnosis and therapy in the new millennium

Annals of Medicine

Volumn 31, Issue 6, 1999, Pages 406-420

  Davies, Nicholas P ^a   Hanna, Michael G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Channelopathy; Epilepsy; Episodic ataxia; Malignant hyperthermia; Migraine; Myotonia; Paramyotonia; Periodic paralysis; Spinocerebellar ataxia type 6

Indexed keywords

ION CHANNEL;

ACTION POTENTIAL; CENTRAL NERVOUS SYSTEM; ELECTROPHYSIOLOGY; EPILEPSY; EXCITATION CONTRACTION COUPLING; GENOTYPE; HUMAN; MALIGNANT HYPERTHERMIA; MIGRAINE; MOLECULAR GENETICS; NEUROLOGIC DISEASE; PERIODIC PARALYSIS; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE; THOMSEN DISEASE; TISSUE SPECIFICITY;

EID: 0033374373     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.3109/07853899908998798     Document Type: Review

References (130)

1. Hille B. Ion Channels of Excitable Membranes. 2nd edn. Sunderland, MA: Sinauer; 1992.
2. Ackerman MJ, Clapham DE. Ion channels - basic science and clinical disease. N Engl J Med 1997; 336: 1575-86.
3. George AL Jr, Ledbetter DH, Kallen RG, Barchi RL. Assignment of a human skeletal muscle sodium channel alpha subunit gene (SCN4A) to 17q23.1-25.3. Genomics 1991; 9: 555-6.
4. Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H. Dihydropyridine receptor mutations cause hypokalaemic periodic paralysis. Cell 1994; 77: 863-8.
5. Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, et al. Genotype-phenotype correlations of DHP receptor alpha 1 subunit gene mutations causing hypokalemic periodic paralysis. Neuromusc Disord 1997; 7: 33-8.
6. Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993; 5: 51-5.
7. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992; 257: 797-800.
8. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993; 3: 305-10.
9. Browne RL, Gancher ST, Nutt LG, Brunt ER, Smith EA, Kramer P, et al. Episodic ataxia-myokymia syndrome is associated with a point mutation in the human potassium channel gene, KCNA1. Nat Genet 1994; 8: 136-40.
10. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998; 279: 403-6.
11. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998; 18: 25-9.
12. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998; 18: 53-5.
13. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the calcium channel gene CACNL1A4. Cell 1996; 87: 543-52.
14. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A voltage-dependent calcium channel. Nat Genet 1997; 15: 62-9.
15. Wallace RH, Wang D, Singh R, Scheffer IE, George AL Jr, Phillips HA, et al. Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel beta-1 subunit gene SCN1B. Nat Genet 1998; 19: 366-70.
16. Aminoff MJ. Anatomy and physiology of nerve and muscle. In: Electromyography in Clinical Practice: Clinical and Electrodiagnostic Aspects of Neuromuscular Disease. 3rd edn. New York: Churchill Livingstone; 1998: 9-29.
17. Barchi RL. Myotonia. Neurol Clin 1988; 6: 473-84.
18. Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 1994; 44: 1500-3.
19. Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus. Am J Hum Genet 1991; 49: 851-4.
20. Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993; 2: 1349-53.
21. Gamstorp I. Adynamia episodica hereditaria. Acta Paediatr (Uppsala), 1956; 45 Suppl 108: 1-126.
22. Rudel R, Hanna MG, Lehmann-Horn F. Muscle channelopathies: malignant hyperthermia, periodic paralyses, paramyotonia and myotonia: In: Schapira AHV, Griggs RC, eds. Muscle Diseases. Heinemann, MA: Butterworth (in press).
23. Ricker K, Camacho L, Grafe P, Lehmann-Horn F, Rüdel R. Adynamia episodica hereditaria: what causes the weakness? Muscle Nerve 1989; 10: 883-91.
24. McManis PG, Lambert LH, Daube JR. The exercise test in periodic paralysis. Muscle Nerve 1986; 9: 704-10.
25. Eulenburg A. Über eine familiäre durch 6 Generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Zentralblatt 1886; 5: 265-72.
26. Becker PE. Myotonia Congenita and Syndromes Associated with Myotonia. Stuttgart: Georg Thieme; 1977.
27. Streib EW. Differential diagnosis of myotonic syndromes. Muscle Nerve 1987; 10: 603-15.
28. Rudel R, Lehmann-Horn F. Paramyotonia, potassium aggravated myotonias and periodic paralyses. Neuromusc Disord 1997; 7: 127-32.
29. Ricker K, Lehmann-Horn F, Moxley RT 3rd. Myotonia fluctuans. Arch Neurol 1990; 47: 268-72.
30. Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for glycine within the III/IV linker. J Physiol 1993; 470: 13-22.
31. Trudell RG, Kaiser KK, Griggs RC. Acetazolamide responsive myotonia congenita. Neurology 1987; 37: 488-91.
32. Lehmann-Horn F, Küther G, Ricker K, Grafe P, Ballanyi K, Rüdel R. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 1987; 10: 363-74.
33. Lehmann-Horn F, Rüdel R, Ricker K. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 1987; 10: 633-41.
34. George AL Jr, Kallen RG, Barchi RL. Isolation of a human skeletal muscle sodium channel cDNA clone (abstract). Biophys J 1990; 57: 108a.
35. + channel alphasubunit in hyperkalaemic periodic paralysis. Nature 1991; 354: 387-9.
36. Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991; 7: 1021-7.
37. McClatchey AI, van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992; 68: 769-74.
38. McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet 1992; 2: 148-52.
39. Hoffman EP, Lehmann-Horn F, Rüdel R. Overexcited or inactive: ion channels in muscle disease. Cell 1995; 80: 681-6.
40. Cannon SC. Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci 1996; 19: 3-10.
41. George AL Jr, Komisarof J, Kallen RG, Barchi RL. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol 1992; 31: 131-7.
42. Davies NP, Eunson LH, Gregory RP, Mills KR, Morrison PJ, Hanna MG. A novel mutation in the voltage-sensing region of the skeletal muscle sodium channel (SCN4A) gene in a family with paramyotonia congenita (abstract). J Neurol Neurosurg Psychiatry (in press).
43. Ptacek LJ, George AL, Barchi RL, Griggs RC, Riggs JA, Robertson M, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel causes paramyotonia congenita. Neuron 1992; 8: 891-7.
44. Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993; 33: 300-7.
45. Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F. Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol 1996; 39: 599-608.
46. Kelly P, Yang WS, Costigan D, Farrell MA, Murphy S, Hardiman O. Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit - a large kindred with a novel phenotype. Neuromusc Disord 1997; 7: 105-11.
47. Hanna MG, Stewart J, Shapira AHV, Wood NW, Morgan-Hughes JA, Murray NM. 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.
48. Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 1971; 60: 559-64.
49. Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997; 42: 305-12.
50. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. Ann Neurol 1994; 35: 326-30.
51. Gould RJ, Steeg CN, Eastwood AB, Penn AS, Rowland LP, DeVivo DC. Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis. Neurology 1985; 35: 1208-12.
52. Lehmann-Horn F, Engel AG, Ricker K, Rudel R. The periodic paralyses and paramyotonia congenita . In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd edn. New York: McGraw-Hill; 1994: 1303-27.
53. Johnsen T. A new standardized and effective method of inducing paralysis without administration of exogenous hormone in patients with familial periodic paralysis. Acta Neurol Scand 1976; 54: 167-72.
54. Riggs JE, Griggs RC. Diagnosis and treatment of the periodic paralyses. In: Klawans HL, ed. Clinical Neuropharmacology, Vol 4. New York: Raven; 1979: 123-38.
55. Raskin RJ, Tesar JT, Lawless OJ. Hypokalemic periodic paralysis in Sjogren's syndrome. Arch Intern Med 1981; 141: 1671-3.
56. Ali K. Hypokalemic periodic paralysis complicating thyrotoxicosis. BMJ 1975; 2: 503-4.
57. Griggs RC, Tawil R, Brown RH, Shapiro BE, Ptacek LJ, McManis PG, et al. Dichlorphenamide is effective in the treatment of hypokalaemic periodic paralysis (abstract). Ann Neurol 1997; 42: 428.
58. Fontaine B, Vale-Santos JM, Jurkat-Rott K, Reboul J, Plassart E, Rime CS. Mapping of hypokalaemic periodic paralysis (HypoPP) to chromosome 1q31-q32 by genome-wide search in three European families. Nat Genet 1994; 6: 267-72.
59. Morrill JA, Brown RH, Cannon SC. Gating of the L-type Ca channel in human skeletal myotubes: an activating defect caused by the hypokalemic periodic paralysis mutation R528H. J Neurosci 1998; 18: 10320-34.
60. Jurkat-Rott K, Uetz U, Pika-Hartlaub U, Powell J, Fontaine B, Melzer W. Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha 1 subunits (R528H). FEBS Lett 1998; 423: 198-204.
61. Tricarico D, Servidei S, Tonali P, Jurkat-Rott K, Camerino DC. Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J Clin Invest 1999; 103: 675-82.
62. Grafe P, Quasthoff S, Strupp M, Lehmann-Horn F. Enhancement of K+ conductance improves in vitro the contraction force of skeletal muscle in hypokalemic periodic paralysis. Muscle Nerve 1990; 13: 451-7.
63. Denborough MA, Lovell RRH. Anaesthetic deaths in a family. Lancet 1960; 2: 45.
64. Hogan K. To fire the train: a second malignant hyperthermia gene. Am J Hum Genet 1997; 60: 1303-8.
65. Harrison GG. Dantrolene - dynamics and kinetics. Br J Anaesth 1988; 60: 274-86.
66. Denborough MA. Malignant hyperthermia. Lancet 1998; 352: 1131-6.
67. European Malignant Hyperpyrexia Group. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 1984; 56: 1267-9.
68. Allen GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS. Anaesthesiology 1998; 88: 579-88.
69. Mitchell G, Heffron JJA. Porcine stress syndrome. Adv Food Res 1982; 28: 167-230.
70. Fujii J, Otsu K, Zorzato F, deLeon S, Khanna VK, Weiler JE, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 1991; 253: 448-51.
71. Greenburg DA. Calcium channels in neurological disease. Ann Neurol 1997; 42: 275-82.
72. Monnier N, Procaccio V, Stielglitz P, Lunardi J. Malignant hyperthermia susceptibility is associated with a mutation of the alpha subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle. Am J Hum Genet 1997; 60: 1316-25.
73. Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, et al. Detection of a novel common mutant in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 1994; 3: 471-6.
74. Monsieurs K, Heytens L, Kloeck C, Martin JJ, Wuyts F, Bossaert L. Slower recovery of muscle phosphocreatine in malignant hyperthermia-susceptible individuals assessed by 31P-MR spectroscopy. J Neurol 1997; 244: 651-6.
75. Thomsen J. Tonische Krampfe in willkurlich beweglichen Muskeln in Folge von ererbter psychischer Disposition (Ataxia muscularis ?). Arch Psychiatrie 1876; 6: 702-18.
76. Hudson AJ, Ebers GC, Bulman DE. The skeletal muscle sodium and chloride channel diseases. Brain 1995; 118: 547-63.
77. Moxley RT. Myotonic disorders in childhood: diagnosis and treatment. J Child Neurol 1997; 12: 116-29.
78. Becker PE. Zur Genetik der Myotonien. In: Kuhn E, ed. Progressive Muskeldystrophie, Myotonie, Myasthenie. Berlin: Springer-Verlag; 1966: 247-55.
79. Lipicky RJ, Bryant SH. Sodium, potassium and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia. J Gen Physiol 1966; 50: 89-111.
80. Bryant SH. Muscle membrane of normal and myotonic goats in normal and low external chloride (abstract). Fed Proc 1962; 21: 312.
81. Lipicky RJ, Bryant SH. A biophysical study of the human myotonias. In: Desmedt JE, ed. New Developments in Electromyography and Clinical Neurophysiology, Vol 1. Basel, Switzerland: Karger; 1973: 451-63.
82. Fahlke C, Knittle T, Gurnett CA, Campbell KP, George AL Jr. Subunit stoichiometry of human muscle chloride channels. J Gen Physiol 1997; 109: 93-104.
83. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998; 7: 1753-60.
84. Schmidt-Rose T, Jentsch T. Transmembrane topology of a ClC chloride channel. Proc Natl Acad Sci USA 1997; 94: 7633-8.
85. Kwiecinski H, Ryniewicz B, Ostrzycki A. Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand 1992; 86: 371-5.
86. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994; 343: 515-7.
87. Phillips HA, Scheffer IE, Berkovic SF, Holloway GE, Sutherland GR, Mulley JC. Localisation of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 2Oq 13.2. Nat Genet 1995; 10: 117-8.
88. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11: 201-3.
89. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, et al. An insertion mutation of the CHRNA4 gene in a family with dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997; 6: 943-7.
90. Sargent PB. The diversity of neuronal nicotinic acetylcholine receptors. Annu Rev Neurosci 1993; 16: 403-43.
91. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, et al. Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q.24. Am J Hum Genet 1998; 63: 1108-16.
92. Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993; 43: 1355-60.
93. Leppert M, Anderson VE, Quattlebaum TG, Stauffer D, O'Connell P, Nakamura Y, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337: 647-8.
94. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993; 53: 670-5.
95. Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M. The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localisation and comparison with KCNQ3. FEBS Lett 1998; 438: 171-6.
96. Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998; 282: 1890-3.
97. Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature 1998; 396: 687-90.
98. Commission on the Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-99.
99. Scheffer IE, Berkovic SF. Generalised epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-90.
100. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalised epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999; 45: 75-81.
101. Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996; 87: 607-17.
102. 2+ channel gamma subunit. Nat Genet 1998; 19: 340-7.
103. Black JL, Lennon VA. Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. Mayo Clin Proc 1999; 74: 357-61.
104. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997; 61: 889-98.
105. Zogbhi HY. The expanding world of ataxins. Nat Genet 1996; 14: 237-40.
106. Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, et al. Abundant expression and cytoplasmic aggregations of alpha-1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 1999; 8: 1185-93.
107. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, et al. Ataxin-1 with an expanded glutamine tract alters nuclear-matrix associated structures. Nature 1997; 389: 971-4.
108. Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997; 6: 1283-7.
109. Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neurol 1995; 37: 285-7.
110. Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997; 41: 8-16.
111. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997; 6: 1973-8.
112. Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium channel gene. Am J Hum Genet 1997; 61: 1078-87.
113. Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999; 52: 1816-21.
114. Elliott MA, Peroutka SJ, Welch S, May EF. Familial hemiplegic migraine, nystagmus and cerebellar atrophy. Ann Neurol 1996; 39: 100-6.
115. Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, et al. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 1999; 64: 89-98.
116. 2+ channel kinetics. J Biol Chem 1998; 273: 5586-90.
117. Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, et al. Functional consequences of mutations in the human alpha-1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 1999; 19: 1610-9.
118. Terwindt GM, Ophoff RA, Haan J, Vergouwe MN, van Eijk R, Haan J, et al. Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Neurology 1998; 50: 1105-10.
119. May A, Ophoff RA, Terwindt GM, Urban C, van Eijk R, Haan J, et al. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura. Hum Genet 1995; 96: 604-8.
120. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q 31. Neurology 1997; 49: 1231-8.
121. Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, et al. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol 1997; 42: 885-90.
122. VanDyke DH, Griggs RC, Murphy MJ, Goldstein MN. Hereditary myokymia and periodic ataxia. J Neurol Sci 1975; 25: 109-18.
123. Brunt ER, van Weerden TW. Familial paroxysmal kinesogenic ataxia and continuous myokymia. Brain 1990; 113: 1361-82.
124. Zuberi SM, Eunson, LH, Spauschus A, DeSilva R, Tolmie J, Wood NW, et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 1999; 122: 817-25.
125. Beckh S, Pongs O. Members of the RCK potassium channel family are differentially expressed in the rat nervous system. EMBO J 1990; 9: 777-82.
126. Jan LY, Jan NY. Cloned potassium channels from eukaryotes and prokaryotes. Annu Rev Neurosci 1997; 20: 91-123.
127. Doyle DA, Morais-Cabral J, Pfuentzner RA, Kuo A, Gulbis JM, Cohen SL, et al. The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 1998; 280: 69-77.
128. Adelman JP, Bond CT, Pessia M, Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 1995; 15: 1449-54.
129. Bretschneider F, Wrisch A, Lehmann-Horn F, Grissmer S. Expression in mammalian cells and electrophysiological characterisation of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1). Eur J Neurosci 1999; 11: 2403-12.
130. Smart SL, Lopanstev V, Zhang CL, Robbins CA, Wang H, Chiu SY, et al. Deletion of the Kv1.1 potassium causes epilepsy in mice. Neuron 1998; 20: 809-19.