Preferences help
enabled [disable] Abstract
Number of results
2000 | 47 | 3 | 685-703
Article title

Ion channels-related diseases.

Title variants
Languages of publication
There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.

Physical description
  • Department of Biophysics, Agricultural University SGGW, Rakowiecka 26/30, 02-528 Warszawa, Poland
  • Department of Biophysics, Agricultural University SGGW, Rakowiecka 26/30, 02-528 Warszawa, Poland
  • Abbott, G.W., Sesti, F., Splawski, I., Buck, M.E., Lehmann, M.H., Timothy, K.W., Keating, M.T. & Goldstein, S.A. (1999) MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97, 175-187.
  • Adelman, J.P., Bond, C.T., Pessia, M. & Maylie, J. (1995) Episodic ataxia results from voltage- dependent potassium channels with altered functions. Neuron 15, 1449-1454.
  • An, R.H., Wang, X.L., Kerem, B., Benhorin, J., Medina, A., Goldmit, M. & Kass, R.S. (1998) Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. Circular Res. 83, 141-146.
  • Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A. & Boycott, K.M. (1998) Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet. 19, 264-267.
  • Bendahhou, S., Cummins, T.R., Kwiecinski, H., Waxman, S.G. & Ptacek, L.J. (1999a) Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J. Physiol. (London) 518, 337-344.
  • Bendahhou, S., Cummins, T.R., Tawil, R., Waxman, S.G. & Ptacek, L.J. (1999b) Activation and inactivation of the voltage-gated sodium channel: Role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J. Neurosci. 19, 4762-4771.
  • Bennett, P.B., Yazawa, K., Makita, N. & George, A.L., Jr. (1995) Molecular mechanism for an inherited cardiac arrhythmia. Nature 376, 683-685.
  • Bezzina, C., Veldkamp, M.W., van den Berg, M.P., Postma, A.V., Rook, M.B., Viersma, J.-W., van Langen, I.M., Tan-Sindhunata, G., Bink- Boelkens, M.T., van der Hout, A.H., Mannens, M.M. & Wilde, A.A. (1999) A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circular Res. 85, 1206-1213.
  • Bianchi, L., Shen, Z., Dennis, A.T., Priori, S.G., Napolitano, C., Ronchetti, E., Bryskin, R., Schwartz, P.J. & Brown, A.M. (1999) Cellular dysfunction of LQT5-minK mutants: Abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum. Mol. Genet. 8, 1499-1507.
  • Biervert, C., Schroeder, B.C., Kubisch, C., Berkovic, S.F., Propping, P., Jentsch, T.J. & Steinlein, O.K. (1998) A potassium channel mutation in neonatal human epilepsy. Science 279, 403-406.
  • Brunt, E.R & van Weerden, T.W. (1990) Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113, 1361-1382.
  • Bufler, J., Pitz, R., Czep, M., Wick, M. & Franke, C. (1998) Purified IgG from seropositive and seronegative patients with mysasthenia gravis reversibly blocks currents through nicotinic acetylcholine receptor channels. Ann. Neurol. 43, 458-464.
  • Chen, J., Zou, A., Splawski, I., Keating, M.T. & Sanguinetti, M.C. (1999) Long QT syndrome- associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J. Biol. Chem. 274, 10113-10118.
  • Chen, X.-Z., Vassilev, P.M., Basora, N., Peng, J.-B., Nomura, H., Segal, Y., Brown, E.M., Reeders, S.T., Hediger, M.A. & Zhou, J. (1999) Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature 401, 383-386.
  • Cheng, S.H., Gregory, R.J., Marshall, J., Paul, S., Souza, D.W., White, G.A., O'Riordan, C.R. & Smith, A.E. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63, 827-834.
  • Chouabe, C., Neyroud, N., Guicheney, P., Lazdunski, M., Romey, G. & Barhanin, J. (1997) Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 16, 5472-5479.
  • Chouabe, C., Neyroud, N., Richard, P., Denjoy, I., Hainque, B., Romey, G., Drici, M.D., Guicheney, P. & Barhanin, J. (2000) Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc. Res. 45, 971-980.
  • D'Adamo, M.C., Imbrici, P., Sponcichetti, F. & Pessia, M. (1999) Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. FASEB J. 13, 1335- 1345.
  • Dumaine, R., Towbin, J.A., Brugada, P., Vatta, M., Nesterenko, D.V., Nesterenko, V.V., Brugada, J., Brugada, R. & Antzelevitch, C. (1999) Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circular Res. 85, 803-809.
  • Engel, A.G., Lambert, E.H. & Howard, F.M. (1977) Immune complexes (IgG and C3) at the motor end-plate in myasthenia gravis: Ultrastructural and light microscopic localization and electrophysiologic correlations. Mayo Clin. Proc. 52, 267-280.
  • Engel, A.G., Ohno, K., Milone, M., Wang, H.L., Nakano, S., Bouzat, C., Pruitt, J.N. 2nd, Hutchinson, D.O., Brengman, J.M., Bren, N., Sieb, J.P. & Sine, S.M. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. 5, 1217-1227.
  • Escayg, A., De Waard, M., Lee, D.D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T. & Meisler, M.H. (2000a) Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66, 1531-1539.
  • Escayg, A., MacDonald, B.T., Meisler, M.H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., Buresi, C. & Malafosse, A. (2000b) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 24, 343-345.
  • Fahlke, C., Beck, C.L. & George, A.L., Jr. (1997) A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc. Natl. Acad. Sci. U.S.A. 94, 2729-2734.
  • Featherstone, D.E., Fujimoto, E. & Ruben, P.C. (1998) A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita. J. Physiol. (London) 506, 627-638.
  • Franqueza, L., Lin, M., Splawski, I., Keating, M.T. & Sanguinetti, M.C. (1999) Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J. Biol. Chem. 274, 21063-21070.
  • Freedman, R., Hall, M., Adler, L.E. & Leonard, S. (1995) Evidence in postmortem brain tissue for decreased numbers of hippocampal nicotinic receptors in schizophrenia. Biol. Psychiatry 38, 22-33.
  • George, A.L., Jr. (1998) Chloride channels and endocytosis: ClC-5 makes a dent. Proc. Natl. Acad. Sci. U.S.A. 95, 7843-7845.
  • Gomez, C.M., Maselli, R., Gundeck, J.E., Chao, M., Day, J.W., Tamamizu, S., Lasalde, J.A., McNamee, M. & Wollmann, R.L. (1997) Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction. J. Neurosci. 17, 4170-4179.
  • Green, D.S., George, A.L., Jr. & Cannon, S.C. (1998) Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I. J. Physiol. (London) 510, 685-694.
  • Gunther, W., Luchow, A., Cluzeaud, F., Vandewalle, A. & Jentsch, T.J. (1998) ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc. Natl. Acad. Sci. U.S.A. 95, 8075-8080.
  • Hans, M., Luvisetto, S., Williams, M.E., Spagnolo, M., Urrutia, A., Tottene, A., Brust, P.F., Johnson, E.C., Harpold, M.M., Stauderman, K.A. & Pietrobon, D. (1999) Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J. Neurosci. 19, 1610-1619.
  • Igarashi, T., Gunther, W., Sekine, T., Inatomi, J., Shiraga, H., Takahashi, S., Suzuki, J., Tsuru, N., Yanagihara, T., Shimazu, M., Jentsch, T.J. & Thakker, R.V. (1998) Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's Japan disease. Kidney Int. 54, 1850-1856.
  • Kambouris, N.G., Nuss, H.B., Johns, D.C., Tomaselli, G.F., Marban, E. & Balser, J.R. (1998) Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. Circulation 97, 640-644.
  • Karolyi, L., Koch, M.C., Grzeschlik, K.-H. & Seyberth, H.W. (1998) The molecular genetic approach to Bartter's syndrome. J. Mol. Med. 76, 317-325.
  • Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T. & Wissinger, B. (1998) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet. 19, 257-259.
  • Kraus, R.L., Sinnegger, M.J., Glossmann, H., Hering, S. & Striessnig, J. (1998) Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. J. Biol. Chem. 273, 5586-5590.
  • Kubisch, C., Schmidt-Rose, T., Fontaine, B., Bretag, A.H. & Jentsch, T.J. (1998) ClC-1 chloride channel mutations in myotonia congenita: Variable penetrance of mutations shifting the voltage dependence. Hum. Mol. Genet. 7, 1753-1760.
  • Kubisch, C., Schroeder, B.C., Friedrich, T., Lutjohann, B., El-Amraoui, A., Marlin, S., Petit, C. & Jentsch, T.J. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96, 437-446.
  • Kuryatov, A., Gerzanich, V., Nelson, M., Olale, F. & Lindstrom, J. (1997) Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J. Neurosci. 17, 9035-9047.
  • Lees-Miller, J.P., Duan, Y., Teng, G.Q., Thorstad, K. & Duff, H.J. (2000) Novel gain-of-function mechanism in K(+) channel-related long-QT syndrome: Altered gating and selectivity in the HERG1 N629D mutant. Circular Res. 86, 507-513.
  • Leonard, S., Adams, C., Breese, C.R., Adler, L.E., Bickford, P., Byerley, W., Coon, H., Griffith, J.M., Miller, C., Myles-Worsley, M., Nagamoto, H.T., Rollins, Y., Stevens, K.E., Waldo, M. & Freedman, R. (1996) Nicotinic receptor function in schizophrenia. Schizophr. Bull. 22, 431-445.
  • Lerche, H., Biervert, C., Alekov, A.K., Schleithoff, L., Lindner, M., Klinger, W., Bretschneider, F., Mitrovic, N., Jurkat-Rott, K., Bode, H., Lehmann-Horn, F. & Steinlein, O.K. (1999) A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann. Neurol. 46, 305-312.
  • Lewis, T.M., Sivilotti, L.G., Colquhoun, D., Gardiner, R.M., Schoepfer, R. & Rees, M. (1998) Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes. J. Physiol. (London) 507, 25-40.
  • Lloyd, S.E., Pearce, S.H., Fisher, S.E., Steinmeyer, K., Schwappach, B., Schelnman, S.J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S.P., Wrong, O., Jentsch, T.J., Craig, I.W. & Thakker, R.V. (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379, 445-449.
  • Makita, N., Shirai, N., Nagashima, M., Matsuoka, R., Yamada, Y., Tohse, N. & Kitabatake, A. (1998) A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett. 423, 5-9.
  • McCarthy, T.V., Quane, K.A. & Lynch, P.J. (2000) Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum. Mutat. 15, 410-417.
  • Milone, M., Wang, H.L., Ohno, K., Fukudome, T., Pruitt, J.N., Bren, N., Sine, S.M. & Engel, A.G. (1997) Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J. Neurosci. 17, 5651-5665.
  • Mitrovic, N., George, A.L., Jr, Lerche, H., Wagner, S., Fahlke, C. & Lehmann-Horn, F. (1995) Different effects on gating of three myotonia- causing mutations in the inactivation gate of the human muscle sodium channel. J. Physiol. (London) 487, 107-114.
  • Mitrovic, N., George, A.L., Jr., Rudel, R., Lehmann-Horn, F. & Lerche, H. (1999) Mutant channels contribute < 50% to Na + current in paramyotonia congenita muscle. Brain 122, 1085-1092.
  • Monnier, N., Procaccio, V., Stieglitz, P. & Lunardi, J. (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine- sensitive L-type voltage-dependent calcium- channel receptor in skeletal muscle. Am. J. Hum. Genet. 60, 1316-1325.
  • Moorhouse, A.J., Jacques, P., Barry, P.H. & Schofield, P.R. (1999) The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating. Mol. Pharmacol. 55, 386-395.
  • Morrill, J.A. & Cannon, S.C. (1999) Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes. J. Physiol. (London) 520, 321-336.
  • Moslehi, R., Langlois, S., Yam, I. & Friedman, J.M. (1998) Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am. J. Med. Genet. 76, 21-27.
  • Nakajima, T., Furukawa, T., Hirano, Y., Tanaka, T., Sakurada, H., Takahashi, T., Nagai, R., Itoh, T., Katayama, Y., Nakamura, Y. & Hiraoka, M. (1999) Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2. Cardiovasc. Res. 44, 283-293.
  • Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faure, S., Gary, F., Coumel, P., Petit, C., Schwartz, K. & Guicheney, P. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15, 186-189.
  • Nomura, H., Turco, A.E., Pei, Y., Kalaydjieva, L., Schiavello, T., Weremowicz, S., Ji, W., Morton, C.C., Meisler, M., Reeders, S.T. & Zhou, J. (1998) Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 273, 25967-25973.
  • Ohno, K., Hutchinson, D.O., Milone, M., Brengman, J.M., Bouzat, C., Sine, S.M. & Engel, A.G. (1995) Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc. Natl. Acad. Sci. U.S.A. 92, 758-762.
  • Ohno, K., Wang, H.L., Milone, M., Bren, N., Brengman, J.M., Nakano, S., Quiram, P., Pruitt, J.N., Sine, S.M. & Engel, A.G. (1996) Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 17, 157-170.
  • Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., van Eijk, R., Oefner, P.J., Hoffman, S.M., Lamerdin, J.E., Mohrenweiser, H.W., Bulman, D.E., Ferrari, M., Haan, J., Lindhout, D., van Ommen, G.J., Hofker, M.H., Ferrari, M.D. & Frants, R.R. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87, 543-552.
  • Perry, E.K., Morris, C.M., Court, J.A., Cheng, A., Fairbairn, A.F., McKeith, I.G., Irving, D., Brown, A. & Perry, R.H. (1995) Alteration in nicotine binding sites in Parkinson's disease, Lewy body dementia and Alzheimer's disease: possible index of early neuropathology. Neuroscience 64, 385-395.
  • Priori, S.G., Schwartz, P.J., Napolitano, C., Bianchi, L., Dennis, A., De Fusco, M., Brown, A.M. & Casari, G. (1998) A recessive variant of the Romano-Ward long-QT syndrome? Circulation 97, 2420-2425.
  • Pusch, M., Steinmeyer, K., Koch, M.C. & Jentsch, T.J. (1995) Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 15, 1455-1463.
  • Rajendra, S., Lynch, J.W., Pierce, K.D., French, C.R., Barry, P.H. & Schofield, P.R. (1994) Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J. Biol. Chem. 269, 18739-18742.
  • Richmond, J.E., Featherstone, D.E. & Ruben, P.C. (1997) Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. J. Physiol. (London) 499, 589-600.
  • Rinne, J.O., Myllykyla, T., Lonnberg, P. & Marjamaki, P. (1991) A postmortem study of brain nicotinic receptors in Parkinson's and Alzheimer's disease. Brain Res. 547, 167-170.
  • Rojas, C.V., Neely, A., Velasco-Loyden, G., Palma, V. & Kukuljan, M. (1999) Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel. Am. J. Physiol. 276, 259-266.
  • Rook, M.B., Alshinawi, C.B., Groenewegen, W.A., van Gelder, I.C., van Ginneken, A.C., Jongsma, H.J., Mannens, M.M. & Wilde, A.A. (1999) Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 44, 507-517.
  • Saul, B., Kuner, T., Sobetzko, D., Brune, W., Hanefeld, F., Meinck, H.M. & Becker, C.M. (1999) Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J. Neurosci. 19, 869-877.
  • Schmitt, N., Schwarz, M., Peretz, A., Abitbol, I., Attali, B. & Pongs, O. (2000) A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. EMBO J. 19, 332-340.
  • Seibert, F.S., Jia, Y., Mathews, C.J., Hanrahan, J.W., Riordan, J.R., Loo, T.W. & Clarke, D.M. (1997) Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. Biochemistry 36, 11966-11974.
  • Shalaby, F.Y., Levesque, P.C., Yang, W.P., Little, W.A., Conder, M.L., Jenkins-West, T. & Blanar, M.A. (1997) Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 96, 1733- 1736.
  • Sharma, N., Crane, A., Gonzalez, G., Bryan, J. & Aguilar-Bryan, L. (2000) Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. Kidney Int. 57, 803-808.
  • Sheppard, D.N., Rich, D.P., Ostedgaard, L.S., Gregory, R.J., Smith, A.E. & Welsh, M.J. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature 362, 160-164.
  • Simon, D.B., Bindra, R.S., Mansfield, T.A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., Rodriguez-Soriano, J., Morales, J.M., Sanjad, S.A., Taylor, C.M., Pilz, D., Brem, A., Trachtman, H., Griswold, W., Richard, G.A., John, E. & Lifton, R.P. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat. Genet. 17, 171-178.
  • Sine, S.M., Ohno, K., Bouzat, C., Auerbach, A., Milone, M., Pruitt, J.N. & Engel, A.G. (1995) Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15, 229-239.
  • Splawski, I., Tristani-Firouzi, M., Lehmann, M.H., Sanguinetti, M.C. & Keating, M.T. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17, 338-340.
  • Spranger, M., Spranger, S., Schwab, S., Benninger, C. & Dichgans, M. (1999) Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis. Eur. Neurol. 41, 150-152.
  • Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E. & Berkovic, S.F. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 201- 203.
  • Takahashi, M.P. & Cannon, S.C. (1999) Enhanced slow inactivation by V445M: A sodium channel mutation associated with myotonia. Biophys. J. 76, 861-868.
  • Takamori, M., Komai, K. & Iwasa, K. (2000) Antibodies to calcium channel and synaptotagmin in Lambert-Eaton myasthenic syndrome. Am. J. Med. Sci. 319, 204-208.
  • Thomas, P., Ye, Y. & Lightner, E. (1996) Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum. Mol. Genet. 5, 1809-1812.
  • Tsui, L.-C. (1992) The spectrum of cystic fibrosis mutations. Trends Genet. 8, 392-398.
  • Vankeerberghen, A., Wei, L., Jaspers, M., Cassiman, J.J., Nilius, B. & Cuppens, H. (1998) Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum. Mol. Genet. 7, 1761-1769.
  • Wagner, S., Lerche, H., Mitrovic, N., Heine, R., George, A.L. & Lehmann-Horn, F. (1997) A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 49, 1018-1025.
  • Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L., Jr., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F. & Mulley, J.C. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat. Genet. 19, 366-370.
  • Wei, J., Wang, D.W., Alings, M., Fish, F., Wathen, M., Roden, D.M. & George, A.L., Jr. (1999) Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation 99, 3165-3171.
  • Weiland, S., Witzemann, V., Villarroel, A., Propping, P. & Steinlein, O. (1996) An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett. 398, 91-96.
  • Wollnik, B., Kubisch, C., Steinmeyer, K. & Pusch, M. (1997) Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. Hum. Mol. Genet. 6, 805-811.
  • Zhang, J., Bendahhou, S., Sanguinetti, M.C. & Ptacek, L.J. (2000) Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology 54, 937-942.
  • Zhou, Z., Gong, Q., Epstein, M.L. & January, C.T. (1998) HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J. Biol. Chem. 273, 21061-21066.
Document Type
Publication order reference
YADDA identifier
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.