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Volumn 21, Issue 4, 2003, Pages 765-777

Channelopathies in pediatric neurology

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ANTICONVULSIVE AGENT; BENZODIAZEPINE; CALCIUM CHANNEL; CARBAMAZEPINE; CHLORIDE CHANNEL; CHLORIDE CHANNEL BLOCKING AGENT; CHLOROTHIAZIDE; DIURETIC AGENT; GLYCINE RECEPTOR; ION CHANNEL; MEXILETINE; POTASSIUM CHANNEL; POTASSIUM CHLORIDE; QUINIDINE SULFATE; SODIUM CHANNEL; SODIUM CHANNEL BLOCKING AGENT; THIAZIDE DIURETIC AGENT; TOCAINIDE;

EID: 0142043285     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(03)00012-4     Document Type: Review
Times cited : (4)

References (67)
  • 1
    • 0028919918 scopus 로고
    • Episodic ataxias as channelopathies
    • Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neurol 1995;37:285-7.
    • (1995) Ann Neurol , vol.37 , pp. 285-287
    • Griggs, R.C.1    Nutt, J.G.2
  • 2
    • 0028307668 scopus 로고
    • Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
    • Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 1994;3:941-6.
    • (1994) Hum Mol Genet , vol.3 , pp. 941-946
    • Lorenz, C.1    Meyer-Kleine, C.2    Steinmeyer, K.3    Koch, M.C.4    Jentsch, T.J.5
  • 3
    • 0030668811 scopus 로고    scopus 로고
    • Ion channel mutations and diseases of skeletal muscle
    • Barchi RL. Ion channel mutations and diseases of skeletal muscle. Neurobiol Dis 1997;4:254-64.
    • (1997) Neurobiol Dis , vol.4 , pp. 254-264
    • Barchi, R.L.1
  • 4
    • 0026705098 scopus 로고
    • The skeletal muscle chloride channel in dominant and recessive human myotonia
    • Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
    • (1992) Science , vol.257 , pp. 797-800
    • Koch, M.C.1    Steinmeyer, K.2    Lorenz, C.3
  • 7
    • 0015007492 scopus 로고
    • Genetic approaches to the nosology of muscular disease: Myotonias and similar diseases
    • Becker PE. Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. Birth Defects 1971;7:52-62.
    • (1971) Birth Defects , vol.7 , pp. 52-62
    • Becker, P.E.1
  • 8
    • 9544248756 scopus 로고    scopus 로고
    • Hereditary dysfunction of voltage-gated sodium channels: From clinical phenotype to molecular mechanisms
    • George AL Jr. Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms. Nephrol Dial Transplant 1996;11:1730-7.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 1730-1737
    • George A.L., Jr.1
  • 9
    • 0027991026 scopus 로고
    • Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis
    • Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 1994;44:1500-3.
    • (1994) Neurology , vol.44 , pp. 1500-1503
    • Ptacek, L.J.1    Tawil, R.2    Griggs, R.C.3
  • 10
  • 11
    • 0027237778 scopus 로고
    • A novel SCN4A mutation causing myotonia aggravated by cold and potassium
    • 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.
    • (1993) Hum Mol Genet , vol.2 , pp. 1349-1353
    • Heine, R.1    Pika, U.2    Lehmann-Horn, F.3
  • 12
    • 0026317944 scopus 로고
    • Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus
    • Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet 1991;49:378-82.
    • (1991) Am J Hum Genet , vol.49 , pp. 378-382
    • Ptacek, L.J.1    Tyler, F.2    Trimmer, J.S.3    Agnew, W.S.4    Leppert, M.5
  • 13
    • 0025649547 scopus 로고
    • Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
    • Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990;250:1000-2.
    • (1990) Science , vol.250 , pp. 1000-1002
    • Fontaine, B.1    Khurana, T.S.2    Hoffman, E.P.3
  • 15
    • 0023688779 scopus 로고
    • The periodic paralyses
    • Riggs JE. The periodic paralyses. Neurol Clin 1988;6:485-98.
    • (1988) Neurol Clin , vol.6 , pp. 485-498
    • Riggs, J.E.1
  • 16
    • 0023101840 scopus 로고
    • Acetazolamide-responsive myotonia congenita
    • Trudell RG, Kaiser KK, Griggs RC. Acetazolamide-responsive myotonia congenita. Neurology 1987;37:488-91.
    • (1987) Neurology , vol.37 , pp. 488-491
    • Trudell, R.G.1    Kaiser, K.K.2    Griggs, R.C.3
  • 17
    • 0028061597 scopus 로고
    • Myotonia fluctuans. A third type of muscle sodium channel disease
    • Ricker K, Moxley RT, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-102.
    • (1994) Arch Neurol , vol.51 , pp. 1095-1102
    • Ricker, K.1    Moxley, R.T.2    Heine, R.3    Lehmann-Horn, F.4
  • 18
    • 0030799454 scopus 로고    scopus 로고
    • Calcium channels in neurological disease
    • Greenberg DA. Calcium channels in neurological disease. Ann Neurol 1997;42:275-82.
    • (1997) Ann Neurol , vol.42 , pp. 275-282
    • Greenberg, D.A.1
  • 19
    • 0021909652 scopus 로고
    • Familial hypokalemic periodic paralysis. 50-Year follow-up of a large family
    • Buruma OJ, Bots GT, Went LN. Familial hypokalemic periodic paralysis. 50-year follow-up of a large family. Arch Neurol 1985;42:28-31.
    • (1985) Arch Neurol , vol.42 , pp. 28-31
    • Buruma, O.J.1    Bots, G.T.2    Went, L.N.3
  • 20
    • 0028269130 scopus 로고
    • Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
    • Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
    • (1994) J Neurol Sci , vol.122 , pp. 33-43
    • Links, T.P.1    Smit, A.J.2    Molenaar, W.M.3    Zwarts, M.J.4    Oosterhuis, H.J.5
  • 21
    • 0028361074 scopus 로고
    • Mapping of hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
    • Fontaine B, Vale-Santos J, Jurkat-Rott K, et al. Mapping of hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet 1994;6:267-72.
    • (1994) Nat Genet , vol.6 , pp. 267-272
    • Fontaine, B.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 22
    • 0028234647 scopus 로고
    • Dihydropyridine receptor mutations cause hypokalaemic periodic paralysis
    • Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalaemic periodic paralysis. Cell 1994;77:863-8.
    • (1994) Cell , vol.77 , pp. 863-868
    • Ptacek, L.J.1    Tawil, R.2    Griggs, R.C.3
  • 23
    • 0027250785 scopus 로고
    • Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
    • Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-5.
    • (1993) Nat Genet , vol.5 , pp. 51-55
    • Quane, K.A.1    Healy, J.M.2    Keating, K.E.3
  • 24
    • 0026319058 scopus 로고
    • Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia
    • Fujii J, Otsu K, Zorzato F, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 1991;253:448-51.
    • (1991) Science , vol.253 , pp. 448-451
    • Fujii, J.1    Otsu, K.2    Zorzato, F.3
  • 26
    • 0036323498 scopus 로고    scopus 로고
    • RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
    • Robinson RL, Brooks C, Brown SL, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat 2002;20:88-97.
    • (2002) Hum Mutat , vol.20 , pp. 88-97
    • Robinson, R.L.1    Brooks, C.2    Brown, S.L.3
  • 27
    • 0036896192 scopus 로고    scopus 로고
    • The spectrum of pathology in central core disease
    • Sewry CA, Muller C, Davis M, et al. The spectrum of pathology in central core disease. Neuromuscul Disord 2002;12:930-8.
    • (2002) Neuromuscul Disord , vol.12 , pp. 930-938
    • Sewry, C.A.1    Muller, C.2    Davis, M.3
  • 28
    • 0001847927 scopus 로고    scopus 로고
    • Cloned potassium channels from eukaryotes and prokaryotes
    • Jan LY, Jan YN. Cloned potassium channels from eukaryotes and prokaryotes. Annu Rev Neurosci 1997;20:91-123.
    • (1997) Annu Rev Neurosci , vol.20 , pp. 91-123
    • Jan, L.Y.1    Jan, Y.N.2
  • 29
    • 0025181699 scopus 로고
    • Members of the RCK potassium channel family are differentially expressed in the rat nervous system
    • 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.
    • (1990) EMBO J , vol.9 , pp. 777-782
    • Beckh, S.1    Pongs, O.2
  • 30
    • 0025006108 scopus 로고
    • Familial paroxysmal kinesigenic ataxia and continuous myokymia
    • Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990;113:1361-82.
    • (1990) Brain , vol.113 , pp. 1361-1382
    • Brunt, E.R.1    Van Weerden, T.W.2
  • 31
    • 0028136739 scopus 로고
    • A gene for episodic ataxia/myokymia maps to chromosome 12p13
    • Litt M, Kramer P, Browne D, et al. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet 1994;55:702-9.
    • (1994) Am J Hum Genet , vol.55 , pp. 702-709
    • Litt, M.1    Kramer, P.2    Browne, D.3
  • 32
    • 0033797135 scopus 로고    scopus 로고
    • Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
    • Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647-56.
    • (2000) Ann Neurol , vol.48 , pp. 647-656
    • Eunson, L.H.1    Rea, R.2    Zuberi, S.M.3
  • 33
    • 0027292974 scopus 로고
    • Seizure characteristics in chromosome 20 benign familial neonatal convulsions
    • Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993;43:1355-60.
    • (1993) Neurology , vol.43 , pp. 1355-1360
    • Ronen, G.M.1    Rosales, T.O.2    Connolly, M.3    Anderson, V.E.4    Leppert, M.5
  • 34
    • 0027359350 scopus 로고
    • Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
    • 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.
    • (1993) Am J Hum Genet , vol.53 , pp. 670-675
    • Lewis, T.B.1    Leach, R.J.2    Ward, K.3    O'Connell, P.4    Ryan, S.G.5
  • 35
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 36
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
    • (1998) Nat Genet , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3
  • 38
    • 0030052699 scopus 로고    scopus 로고
    • Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
    • Elliott MA, Peroutka SJ, Welch S, May EF. Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Ann Neurol 1996;39:100-6.
    • (1996) Ann Neurol , vol.39 , pp. 100-106
    • Elliott, M.A.1    Peroutka, S.J.2    Welch, S.3    May, E.F.4
  • 39
    • 0028963974 scopus 로고
    • A gene for cerebellar paroxysmal ataxia maps to chromosome 19p
    • Vahedi K, Joutel A, Van Bogaert P, et al. A gene for cerebellar paroxysmal ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-93.
    • (1995) Ann Neurol , vol.37 , pp. 289-293
    • Vahedi, K.1    Joutel, A.2    Van Bogaert, P.3
  • 40
    • 0028920029 scopus 로고
    • Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
    • von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995;4:279-84.
    • (1995) Hum Mol Genet , vol.4 , pp. 279-284
    • Von Brederlow, B.1    Hahn, A.F.2    Koopman, W.J.3    Ebers, G.C.4    Bulman, D.E.5
  • 41
    • 0029033627 scopus 로고
    • Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13
    • Teh BT, Silburn P, Lindblad K, et al. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995;56:1443-9.
    • (1995) Am J Hum Genet , vol.56 , pp. 1443-1449
    • Teh, B.T.1    Silburn, P.2    Lindblad, K.3
  • 42
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • 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.
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 43
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 44
    • 9844263366 scopus 로고    scopus 로고
    • Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
    • Jodice C, Mantuano E, Venziano 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.
    • (1997) Hum Mol Genet , vol.6 , pp. 1973-1978
    • Jodice, C.1    Mantuano, E.2    Venziano, L.3
  • 45
    • 8544235014 scopus 로고    scopus 로고
    • SCA6 is caused by moderate CAG expansion in the alpha] A-voltage-dependent calcium channel gene
    • Riess O, Schols L, Bottger H, et al. SCA6 is caused by moderate CAG expansion in the alpha] A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-93.
    • (1997) Hum Mol Genet , vol.6 , pp. 1289-1293
    • Riess, O.1    Schols, L.2    Bottger, H.3
  • 46
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, 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.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 47
    • 0030666001 scopus 로고    scopus 로고
    • Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
    • Skinner PJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-4.
    • (1997) Nature , vol.389 , pp. 971-974
    • Skinner, P.J.1    Koshy, B.T.2    Cummings, C.J.3
  • 48
    • 0035426568 scopus 로고    scopus 로고
    • Regulation of Na + channel distribution in the nervous system
    • Novakovic SD, Eglen RM, Hunter JC. Regulation of Na + channel distribution in the nervous system. Trends Neurosci 2001;24:473-8.
    • (2001) Trends Neurosci , vol.24 , pp. 473-478
    • Novakovic, S.D.1    Eglen, R.M.2    Hunter, J.C.3
  • 49
    • 0032606082 scopus 로고    scopus 로고
    • Molecular properties of brain sodium channels: An important target for anticonvulsant drugs
    • Catterall WA. Molecular properties of brain sodium channels: an important target for anticonvulsant drugs. Adv Neurol 1999;79:441-56.
    • (1999) Adv Neurol , vol.79 , pp. 441-456
    • Catterall, W.A.1
  • 50
    • 0037076493 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
    • Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-9.
    • (2002) Neurology , vol.58 , pp. 1426-1429
    • Wallace, R.H.1    Scheffer, I.E.2    Parasivam, G.3
  • 51
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 52
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
    • Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999;45:75-81.
    • (1999) Ann Neurol , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3    Berkovic, S.F.4
  • 53
    • 0034727609 scopus 로고    scopus 로고
    • Ligand-gated ion channelopathies: Mutations in different genes causing one disease
    • Ptacek LJ. Ligand-gated ion channelopathies: mutations in different genes causing one disease. Neurology 2000;55:1429-30.
    • (2000) Neurology , vol.55 , pp. 1429-1430
    • Ptacek, L.J.1
  • 54
    • 0028011992 scopus 로고
    • Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-7.
    • (1994) Lancet , vol.343 , pp. 515-517
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 55
    • 0028900303 scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995;118:61-73.
    • (1995) Brain , vol.118 , pp. 61-73
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 57
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, 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.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 58
    • 0036359457 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Genetic defects of the neuromuscular junction
    • Ohno K, Engel AG. Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep 2002;2:78-88.
    • (2002) Curr Neurol Neurosci Rep , vol.2 , pp. 78-88
    • Ohno, K.1    Engel, A.G.2
  • 59
    • 0031749640 scopus 로고    scopus 로고
    • Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
    • Harper CM, Engel AG. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol 1998;43:480-4.
    • (1998) Ann Neurol , vol.43 , pp. 480-484
    • Harper, C.M.1    Engel, A.G.2
  • 60
    • 0036135172 scopus 로고    scopus 로고
    • Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
    • Gomez CM, Maselli RA, Vohra BP, et al. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 2002;51:102-12.
    • (2002) Ann Neurol , vol.51 , pp. 102-112
    • Gomez, C.M.1    Maselli, R.A.2    Vohra, B.P.3
  • 61
    • 0036206747 scopus 로고    scopus 로고
    • Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    • Ohno K, Engel AG, Shen XM, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-85.
    • (2002) Am J Hum Genet , vol.70 , pp. 875-885
    • Ohno, K.1    Engel, A.G.2    Shen, X.M.3
  • 62
    • 0036237543 scopus 로고    scopus 로고
    • A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome
    • Abicht A, Stucka R, Schmidt C, et al. A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome. Brain 2002;125:1005-13.
    • (2002) Brain , vol.125 , pp. 1005-1013
    • Abicht, A.1    Stucka, R.2    Schmidt, C.3
  • 63
    • 0037168777 scopus 로고    scopus 로고
    • Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
    • Shen XM, Ohno K, Fukudome T, et al. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 2002;59:1881-2.
    • (2002) Neurology , vol.59 , pp. 1881-1882
    • Shen, X.M.1    Ohno, K.2    Fukudome, T.3
  • 64
    • 0027330927 scopus 로고
    • Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia
    • Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nat Genet 1993;5:351-8.
    • (1993) Nat Genet , vol.5 , pp. 351-358
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.Z.3    Hahn, A.F.4    O'Connell, P.5    Wasmuth, J.J.6
  • 65
    • 0036806404 scopus 로고    scopus 로고
    • Hyperekplexia: A treatable neurogenetic disease
    • Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neurogenetic disease. Brain Dev 2002;24:669-74.
    • (2002) Brain Dev , vol.24 , pp. 669-674
    • Zhou, L.1    Chillag, K.L.2    Nigro, M.A.3
  • 67
    • 0026651547 scopus 로고
    • Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
    • Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992;31:663-8.
    • (1992) Ann Neurol , vol.31 , pp. 663-668
    • Ryan, S.G.1    Sherman, S.L.2    Terry, J.C.3    Sparkes, R.S.4    Torres, M.C.5    Mackey, R.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.