메뉴 건너뛰기




Volumn 120, Issue 10, 2009, Pages 1768-1776

Clinical neurophysiology of the episodic ataxias: Insights into ion channel dysfunction in vivo

Author keywords

Channelopathy; Epilepsy; Episodic ataxia; Neuromyotonia; Voltage gated ion channel

Indexed keywords

CALCIUM CHANNEL; POTASSIUM CHANNEL; POTASSIUM CHANNEL KV1.1; VOLTAGE GATED POTASSIUM CHANNEL;

EID: 70350036094     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2009.07.003     Document Type: Review
Times cited : (38)

References (99)
  • 1
    • 0029560754 scopus 로고
    • Episodic ataxia results from voltage-dependent potassium channels with altered functions
    • Adelman J.P., Bond C.T., Pessia M., and Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15 (1995) 1449-1454
    • (1995) Neuron , vol.15 , pp. 1449-1454
    • Adelman, J.P.1    Bond, C.T.2    Pessia, M.3    Maylie, J.4
  • 2
    • 0344406276 scopus 로고    scopus 로고
    • Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family
    • Alonso I., Barros J., Tuna A., Coelho J., Sequeiros J., Silveira I., et al. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol 60 (2003) 610-614
    • (2003) Arch Neurol , vol.60 , pp. 610-614
    • Alonso, I.1    Barros, J.2    Tuna, A.3    Coelho, J.4    Sequeiros, J.5    Silveira, I.6
  • 4
    • 0035942346 scopus 로고    scopus 로고
    • Neuromuscular transmission in migraine: a single-fiber EMG study in clinical subgroups
    • Ambrosini A., Maertens De Noordhout A., and Schoenen J. Neuromuscular transmission in migraine: a single-fiber EMG study in clinical subgroups. Neurology 56 (2001) 1038-1043
    • (2001) Neurology , vol.56 , pp. 1038-1043
    • Ambrosini, A.1    Maertens De Noordhout, A.2    Schoenen, J.3
  • 5
    • 39549085743 scopus 로고    scopus 로고
    • Performances in cerebellar and neuromuscular transmission tests are correlated in migraine with aura
    • Ambrosini A., Sándor P.S., De Pasqua V., Pierelli F., and Schoenen J. Performances in cerebellar and neuromuscular transmission tests are correlated in migraine with aura. J Headache Pain 9 (2008) 29-32
    • (2008) J Headache Pain , vol.9 , pp. 29-32
    • Ambrosini, A.1    Sándor, P.S.2    De Pasqua, V.3    Pierelli, F.4    Schoenen, J.5
  • 6
    • 0021336274 scopus 로고
    • Hereditary form of sustained muscle activity of peripheral nerve origin causing generalized myokymia and muscle stiffness
    • Auger R.G., Daube J.R., Gomez M.R., and Lambert E.H. Hereditary form of sustained muscle activity of peripheral nerve origin causing generalized myokymia and muscle stiffness. Ann Neurol 15 (1984) 13-21
    • (1984) Ann Neurol , vol.15 , pp. 13-21
    • Auger, R.G.1    Daube, J.R.2    Gomez, M.R.3    Lambert, E.H.4
  • 7
    • 0023162189 scopus 로고
    • Function and distribution of three types of rectifying channel in rat spinal root myelinated axons
    • Baker M., Bostock H., Grafe P., and Martius P. Function and distribution of three types of rectifying channel in rat spinal root myelinated axons. J Physiol 383 (1987) 45-67
    • (1987) J Physiol , vol.383 , pp. 45-67
    • Baker, M.1    Bostock, H.2    Grafe, P.3    Martius, P.4
  • 8
    • 0025874909 scopus 로고
    • Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features
    • Baloh R.W., and Winder A. Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. Neurology 41 (1991) 429-433
    • (1991) Neurology , vol.41 , pp. 429-433
    • Baloh, R.W.1    Winder, A.2
  • 9
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p
    • Baloh R.W., Yue Q., Furman J.M., and Nelson S.F. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 41 (1997) 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
  • 10
    • 0020005026 scopus 로고
    • Intracellular recording from vertebrate myelinated axons: mechanism of depolarizing afterpotential
    • Barrett E.F., and Barrett J.N. Intracellular recording from vertebrate myelinated axons: mechanism of depolarizing afterpotential. J Physiol 323 (1982) 117-144
    • (1982) J Physiol , vol.323 , pp. 117-144
    • Barrett, E.F.1    Barrett, J.N.2
  • 11
    • 0033551452 scopus 로고    scopus 로고
    • A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
    • Battistini S., Stenirri S., Piatti M., Gelf C., Righetti P., Rocchi R., et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology 53 (1999) 38-43
    • (1999) Neurology , vol.53 , pp. 38-43
    • Battistini, S.1    Stenirri, S.2    Piatti, M.3    Gelf, C.4    Righetti, P.5    Rocchi, R.6
  • 12
    • 0014317469 scopus 로고
    • The recovery of excitability of single human motor nerve fibres after repetitive activation
    • Bergmans J. The recovery of excitability of single human motor nerve fibres after repetitive activation. Electromyography 8 (1968) 281-285
    • (1968) Electromyography , vol.8 , pp. 281-285
    • Bergmans, J.1
  • 14
    • 0027948595 scopus 로고
    • Post-tetanic excitability changes and ectopic discharges in a human motor axon
    • Bostock H., and Bergmans J. Post-tetanic excitability changes and ectopic discharges in a human motor axon. Brain 117 (1994) 913-928
    • (1994) Brain , vol.117 , pp. 913-928
    • Bostock, H.1    Bergmans, J.2
  • 15
    • 0023822152 scopus 로고
    • Evidence for two types of potassium channel in human motor axons in vivo
    • Bostock H., and Baker M. Evidence for two types of potassium channel in human motor axons in vivo. Brain Res 462 (1988) 354-358
    • (1988) Brain Res , vol.462 , pp. 354-358
    • Bostock, H.1    Baker, M.2
  • 16
    • 0025886951 scopus 로고
    • Changes in excitability of human motor axons underlying post-ischaemic fasciculations: evidence for two stable states
    • Bostock H., Baker M., and Reid G. Changes in excitability of human motor axons underlying post-ischaemic fasciculations: evidence for two stable states. J Physiol 441 (1991) 537-557
    • (1991) J Physiol , vol.441 , pp. 537-557
    • Bostock, H.1    Baker, M.2    Reid, G.3
  • 17
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne D.L., Gancher S.T., Nutt J.G., Brunt E.R., Smith E.A., Kramer P., et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8 (1994) 136-140
    • (1994) Nat Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.4    Smith, E.A.5    Kramer, P.6
  • 19
    • 0025006108 scopus 로고
    • Familial paroxysmal kinesigenic ataxia and continuous myokymia
    • Brunt E.R., and Van Weerden T.W. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113 (1990) 1361-1382
    • (1990) Brain , vol.113 , pp. 1361-1382
    • Brunt, E.R.1    Van Weerden, T.W.2
  • 21
    • 22044455177 scopus 로고    scopus 로고
    • A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
    • Cader M., Steckley J., Dyment D., McLachlan R., and Ebers G. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 65 (2005) 156-158
    • (2005) Neurology , vol.65 , pp. 156-158
    • Cader, M.1    Steckley, J.2    Dyment, D.3    McLachlan, R.4    Ebers, G.5
  • 22
    • 0031005965 scopus 로고    scopus 로고
    • Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13
    • Calandriello L., Veneziano L., Francia A., Sabbadini G., Colonnese C., Mantuano E., et al. Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. Brain 120 (1997) 805-812
    • (1997) Brain , vol.120 , pp. 805-812
    • Calandriello, L.1    Veneziano, L.2    Francia, A.3    Sabbadini, G.4    Colonnese, C.5    Mantuano, E.6
  • 23
    • 33847666125 scopus 로고    scopus 로고
    • Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
    • Chen H., von Hehn C., Kaczmarek L.K., Ment L.R., Pober B.R., and Hisama F.M. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 8 (2007) 131-135
    • (2007) Neurogenetics , vol.8 , pp. 131-135
    • Chen, H.1    von Hehn, C.2    Kaczmarek, L.K.3    Ment, L.R.4    Pober, B.R.5    Hisama, F.M.6
  • 24
    • 0037132884 scopus 로고    scopus 로고
    • CACNA1A and P/Q-type calcium channels in epilepsy
    • Chioza B., Nashef L., Asherson P., and Makoff A. CACNA1A and P/Q-type calcium channels in epilepsy. Lancet 359 (2002) 258
    • (2002) Lancet , vol.359 , pp. 258
    • Chioza, B.1    Nashef, L.2    Asherson, P.3    Makoff, A.4
  • 26
    • 0032473349 scopus 로고    scopus 로고
    • Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel
    • D'Adamo M.C., Liu Z., Adelman J.P., Maylie J., and Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J 17 (1998) 1200-1207
    • (1998) EMBO J , vol.17 , pp. 1200-1207
    • D'Adamo, M.C.1    Liu, Z.2    Adelman, J.P.3    Maylie, J.4    Pessia, M.5
  • 28
    • 0029922495 scopus 로고    scopus 로고
    • Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
    • Damji K.F., Allingham R.R., Pollock S.C., Small K., Lewis K.E., Stajich J.M., et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 53 (1996) 338-344
    • (1996) Arch Neurol , vol.53 , pp. 338-344
    • Damji, K.F.1    Allingham, R.R.2    Pollock, S.C.3    Small, K.4    Lewis, K.E.5    Stajich, J.M.6
  • 29
    • 0030809299 scopus 로고    scopus 로고
    • Differential localization of voltage dependent calcium channel alpha1 subunits at the human and rat neuromuscular junction
    • Day N.C., Wood S.J., Ince P.G., Ince P.G., Volsen S.G., Smith W., et al. Differential localization of voltage dependent calcium channel alpha1 subunits at the human and rat neuromuscular junction. J Neurosci 17 (1997) 6226-6235
    • (1997) J Neurosci , vol.17 , pp. 6226-6235
    • Day, N.C.1    Wood, S.J.2    Ince, P.G.3    Ince, P.G.4    Volsen, S.G.5    Smith, W.6
  • 30
    • 0032975258 scopus 로고    scopus 로고
    • High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
    • 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 52 (1999) 1816-1821
    • (1999) Neurology , vol.52 , pp. 1816-1821
    • Denier, C.1    Ducros, A.2    Vahedi, K.3    Joutel, A.4    Thierry, P.5    Ritz, A.6
  • 32
    • 25444448250 scopus 로고    scopus 로고
    • A single-fibre EMG study of neuromuscular transmission in migraine patients
    • Domitrz I., Kostera-Pruszczyk A., and Kwiecinsk I.H. A single-fibre EMG study of neuromuscular transmission in migraine patients. Cephalalgia 25 (2005) 817-821
    • (2005) Cephalalgia , vol.25 , pp. 817-821
    • Domitrz, I.1    Kostera-Pruszczyk, A.2    Kwiecinsk, I.H.3
  • 33
    • 0035811775 scopus 로고    scopus 로고
    • The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    • Ducros A., Denier C., Joutel A., Cecillon M., Lescoat C., Vahedi K., et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 345 (2001) 17-24
    • (2001) N Engl J Med , vol.345 , pp. 17-24
    • Ducros, A.1    Denier, C.2    Joutel, A.3    Cecillon, M.4    Lescoat, C.5    Vahedi, K.6
  • 34
    • 0033910736 scopus 로고    scopus 로고
    • Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    • Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66 (2000) 1531-1539
    • (2000) Am J Hum Genet , vol.66 , pp. 1531-1539
    • Escayg, A.1    De Waard, M.2    Lee, D.D.3    Bichet, D.4    Wolf, P.5    Mayer, T.6
  • 35
    • 0033797135 scopus 로고    scopus 로고
    • Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
    • Eunson L.H., Rea R., Zuberi S.M., Youroukos S., Panayiotopoulos C.P., Liguori R., et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 48 (2000) 647-656
    • (2000) Ann Neurol , vol.48 , pp. 647-656
    • Eunson, L.H.1    Rea, R.2    Zuberi, S.M.3    Youroukos, S.4    Panayiotopoulos, C.P.5    Liguori, R.6
  • 36
    • 9144223871 scopus 로고    scopus 로고
    • Electromyography guides toward subgroups of mutations in muscle channelopathies
    • Fournier E., Arzel M., Sternberg D., Vicart S., Laforet P., Eymard B., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 56 (2004) 650-661
    • (2004) Ann Neurol , vol.56 , pp. 650-661
    • Fournier, E.1    Arzel, M.2    Sternberg, D.3    Vicart, S.4    Laforet, P.5    Eymard, B.6
  • 37
    • 33749493507 scopus 로고    scopus 로고
    • Cold extends electromyography distinction between ion channel mutations causing myotonia
    • Fournier E., Viala K., Gervais H., Sternberg D., Arzel-Hézode M., Laforêt P., et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 60 (2006) 356-365
    • (2006) Ann Neurol , vol.60 , pp. 356-365
    • Fournier, E.1    Viala, K.2    Gervais, H.3    Sternberg, D.4    Arzel-Hézode, M.5    Laforêt, P.6
  • 38
    • 26944462723 scopus 로고    scopus 로고
    • Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy
    • Fureman B.E., and Hess E.J. Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy. Neurobiol Dis 20 (2005) 227-232
    • (2005) Neurobiol Dis , vol.20 , pp. 227-232
    • Fureman, B.E.1    Hess, E.J.2
  • 39
    • 0022939362 scopus 로고
    • Autosomal dominant episodic ataxia: a heterogeneous syndrome
    • Gancher S.T., and Nutt J.G. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord 4 (1986) 239-253
    • (1986) Mov Disord , vol.4 , pp. 239-253
    • Gancher, S.T.1    Nutt, J.G.2
  • 40
    • 50049109437 scopus 로고    scopus 로고
    • Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity
    • Graves T.D., and Hanna M.G. Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. J Neurol 255 (2008) 1097-1099
    • (2008) J Neurol , vol.255 , pp. 1097-1099
    • Graves, T.D.1    Hanna, M.G.2
  • 41
    • 0018122266 scopus 로고
    • Hereditary paroxysmal ataxia: response to acetazolamide
    • Griggs R.C., Moxley R.T., and Lafrance R. Hereditary paroxysmal ataxia: response to acetazolamide. Neurology 28 (1978) 1259-1264
    • (1978) Neurology , vol.28 , pp. 1259-1264
    • Griggs, R.C.1    Moxley, R.T.2    Lafrance, R.3
  • 42
    • 0028919918 scopus 로고
    • Episodic ataxias as channelopathies. Editorial
    • Griggs R.C., and Nutt J.G. Episodic ataxias as channelopathies. Editorial. Ann Neurol 37 (1995) 285-286
    • (1995) Ann Neurol , vol.37 , pp. 285-286
    • Griggs, R.C.1    Nutt, J.G.2
  • 43
    • 0035089729 scopus 로고    scopus 로고
    • Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
    • Guida S., Trettel F., Pagnutti S., Mantuano E., Tottene A., Veneziano L., et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 68 (2001) 759-764
    • (2001) Am J Hum Genet , vol.68 , pp. 759-764
    • Guida, S.1    Trettel, F.2    Pagnutti, S.3    Mantuano, E.4    Tottene, A.5    Veneziano, L.6
  • 44
    • 33646243805 scopus 로고    scopus 로고
    • Genetic neurological channelopathies
    • Hanna M.G. Genetic neurological channelopathies. Nat Clin Pract Neurol 5 (2006) 252-263
    • (2006) Nat Clin Pract Neurol , vol.5 , pp. 252-263
    • Hanna, M.G.1
  • 45
    • 0017451895 scopus 로고
    • Contractures, continuous muscle discharges, and titubation
    • Hanson P.A., Martinez L.B., and Cassidy R. Contractures, continuous muscle discharges, and titubation. Ann Neurol 1 (1977) 120-124
    • (1977) Ann Neurol , vol.1 , pp. 120-124
    • Hanson, P.A.1    Martinez, L.B.2    Cassidy, R.3
  • 46
    • 0036348608 scopus 로고    scopus 로고
    • Phenotypic variants of autoimmune peripheral nerve hyperexcitability
    • Hart I.K., Maddison P., Newsom-Davis J., Vincent A., and Mills K.R. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 125 (2002) 1887-1895
    • (2002) Brain , vol.125 , pp. 1887-1895
    • Hart, I.K.1    Maddison, P.2    Newsom-Davis, J.3    Vincent, A.4    Mills, K.R.5
  • 49
    • 33845610615 scopus 로고    scopus 로고
    • Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2
    • Imbrici P., D'Adamo M.C., Kullmann D.M., and Pessia M. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. Eur J Neurosci 24 (2006) 3073-3083
    • (2006) Eur J Neurosci , vol.24 , pp. 3073-3083
    • Imbrici, P.1    D'Adamo, M.C.2    Kullmann, D.M.3    Pessia, M.4
  • 50
    • 0033551468 scopus 로고    scopus 로고
    • A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia
    • Jen J., Yue Q., Nelson S.F., Yu H., Litt M., Nutt J., et al. A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology 53 (1999) 34-37
    • (1999) Neurology , vol.53 , pp. 34-37
    • Jen, J.1    Yue, Q.2    Nelson, S.F.3    Yu, H.4    Litt, M.5    Nutt, J.6
  • 51
    • 0035960623 scopus 로고    scopus 로고
    • Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission
    • Jen J., Wan J., Graves M., Yu H., Mock A.F., Coulin C.J., et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 57 (2001) 1843-1848
    • (2001) Neurology , vol.57 , pp. 1843-1848
    • Jen, J.1    Wan, J.2    Graves, M.3    Yu, H.4    Mock, A.F.5    Coulin, C.J.6
  • 52
    • 0347722572 scopus 로고    scopus 로고
    • Clinical spectrum of episodic ataxia type 2
    • Jen J., Kim G.W., and Baloh A.W. Clinical spectrum of episodic ataxia type 2. Neurology 62 (2004) 17-22
    • (2004) Neurology , vol.62 , pp. 17-22
    • Jen, J.1    Kim, G.W.2    Baloh, A.W.3
  • 53
    • 23844500344 scopus 로고    scopus 로고
    • Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    • Jen J., Wan J., Palos T., Howard B., and Baloh R. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65 (2005) 529-534
    • (2005) Neurology , vol.65 , pp. 529-534
    • Jen, J.1    Wan, J.2    Palos, T.3    Howard, B.4    Baloh, R.5
  • 54
    • 34848869371 scopus 로고    scopus 로고
    • the CINCH investigators. Primary episodic ataxias: Diagnosis, pathogenesis and treatment
    • Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW, the CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93.
    • (2007) Brain , vol.130 , pp. 2484-2493
    • Jen, J.C.1    Graves, T.D.2    Hess, E.J.3    Hanna, M.G.4    Griggs, R.C.5    Baloh, R.W.6
  • 55
    • 33646430325 scopus 로고    scopus 로고
    • Dominant-negative effects of human P/Q-type Ca2_channel mutations associated with episodic ataxia type 2
    • Jeng C.J., Chen Y.T., Chen Y.W., and Tang C.Y. Dominant-negative effects of human P/Q-type Ca2_channel mutations associated with episodic ataxia type 2. Am J Physiol Cell Physiol 290 (2006) c1209-C1220
    • (2006) Am J Physiol Cell Physiol , vol.290
    • Jeng, C.J.1    Chen, Y.T.2    Chen, Y.W.3    Tang, C.Y.4
  • 56
    • 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., 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 6 (1997) 1973-1978
    • (1997) Hum Mol Genet , vol.6 , pp. 1973-1978
    • Jodice, C.1    Mantuano, E.2    Veneziano, L.3    Trettel, F.4    Sabbadini, G.5    Calandriello, L.6
  • 57
    • 0035828406 scopus 로고    scopus 로고
    • Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
    • Jouvenceau A., Eunson L.H., Spauschus A., Ramesh V., Zuberi S.M., Kullmann D.M., et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358 (2001) 801-807
    • (2001) Lancet , vol.358 , pp. 801-807
    • Jouvenceau, A.1    Eunson, L.H.2    Spauschus, A.3    Ramesh, V.4    Zuberi, S.M.5    Kullmann, D.M.6
  • 58
    • 0014078590 scopus 로고
    • The timing of calcium action during neuromuscular transmission
    • Katz B., and Miledi R. The timing of calcium action during neuromuscular transmission. J Physiol 189 (1967) 535-544
    • (1967) J Physiol , vol.189 , pp. 535-544
    • Katz, B.1    Miledi, R.2
  • 60
    • 4444286698 scopus 로고    scopus 로고
    • Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
    • Kinali M., Jungbluth H., Eunson L.H., Sewry C.A., Manzur A.Y., Mercuri E., et al. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul Disord 14 (2004) 689-693
    • (2004) Neuromuscul Disord , vol.14 , pp. 689-693
    • Kinali, M.1    Jungbluth, H.2    Eunson, L.H.3    Sewry, C.A.4    Manzur, A.Y.5    Mercuri, E.6
  • 61
    • 2442476242 scopus 로고    scopus 로고
    • Episodic ataxia type 1 with distal weakness - a novel manifestation of a potassium channelopathy
    • Klein A., Boltshauser E., Jen J., and Baloh R.W. Episodic ataxia type 1 with distal weakness - a novel manifestation of a potassium channelopathy. Neuropediatrics 35 (2004) 147-149
    • (2004) Neuropediatrics , vol.35 , pp. 147-149
    • Klein, A.1    Boltshauser, E.2    Jen, J.3    Baloh, R.W.4
  • 62
    • 0020505960 scopus 로고
    • Maturation of mammalian myelinated fibers: changes in action-potential characteristics following 4-aminopyridine application
    • Kocsis J.D., Ruiz J.A., and Waxman S.G. Maturation of mammalian myelinated fibers: changes in action-potential characteristics following 4-aminopyridine application. J Neurophysiol 50 (1983) 449-463
    • (1983) J Neurophysiol , vol.50 , pp. 449-463
    • Kocsis, J.D.1    Ruiz, J.A.2    Waxman, S.G.3
  • 63
    • 4644282550 scopus 로고    scopus 로고
    • Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
    • Kors E.E., Melberg A., Vanmolkot K.R.J., Kumlien E., Haan J., Rainink R., et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology 63 (2004) 1136-1137
    • (2004) Neurology , vol.63 , pp. 1136-1137
    • Kors, E.E.1    Melberg, A.2    Vanmolkot, K.R.J.3    Kumlien, E.4    Haan, J.5    Rainink, R.6
  • 64
    • 0018378987 scopus 로고
    • Hyperexcitability of motor and sensory neurons in neuromyotonia
    • Lance J.W., Burke D., and Pollard J. Hyperexcitability of motor and sensory neurons in neuromyotonia. Ann Neurol 5 (1979) 523-532
    • (1979) Ann Neurol , vol.5 , pp. 523-532
    • Lance, J.W.1    Burke, D.2    Pollard, J.3
  • 66
    • 0346734158 scopus 로고    scopus 로고
    • Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2
    • Maselli R.A., Wan J., Dunne V., Graves M., Balow R.W., Wollmann R.L., et al. Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2. Neurology 61 (2003) 1743-1748
    • (2003) Neurology , vol.61 , pp. 1743-1748
    • Maselli, R.A.1    Wan, J.2    Dunne, V.3    Graves, M.4    Balow, R.W.5    Wollmann, R.L.6
  • 68
    • 35448991345 scopus 로고    scopus 로고
    • Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
    • Michel P., Sternberg D., Jeannet P.Y., Dunand M., Thonney F., Kress W., et al. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 36 (2007) 643-650
    • (2007) Muscle Nerve , vol.36 , pp. 643-650
    • Michel, P.1    Sternberg, D.2    Jeannet, P.Y.3    Dunand, M.4    Thonney, F.5    Kress, W.6
  • 70
    • 0031030373 scopus 로고    scopus 로고
    • Excitability changes in human sensory and motor axons during hyperventilation and ischaemia
    • Mogyoros I., Kiernan M.C., Burke D., and Bostock H. Excitability changes in human sensory and motor axons during hyperventilation and ischaemia. Brain 120 (1997) 317-325
    • (1997) Brain , vol.120 , pp. 317-325
    • Mogyoros, I.1    Kiernan, M.C.2    Burke, D.3    Bostock, H.4
  • 71
    • 0030005268 scopus 로고    scopus 로고
    • The electroencephalogram in acetazolamide-responsive periodic ataxia
    • Neufeld M.Y., Nisipeanu P., Chistik V., and Korczyn A.D. The electroencephalogram in acetazolamide-responsive periodic ataxia. Mov Disord 11 (1996) 283-288
    • (1996) Mov Disord , vol.11 , pp. 283-288
    • Neufeld, M.Y.1    Nisipeanu, P.2    Chistik, V.3    Korczyn, A.D.4
  • 72
    • 0027400589 scopus 로고
    • Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review
    • Newsom-Davis J., and Mills K.R. Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review. Brain 116 (1993) 453-469
    • (1993) Brain , vol.116 , pp. 453-469
    • Newsom-Davis, J.1    Mills, K.R.2
  • 75
    • 0036400556 scopus 로고    scopus 로고
    • Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1
    • Rea R., Spauschus A., Eunson L.H., Hanna M.G., and Kullmann D.M. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J Physiol 538 (2002) 5-23
    • (2002) J Physiol , vol.538 , pp. 5-23
    • Rea, R.1    Spauschus, A.2    Eunson, L.H.3    Hanna, M.G.4    Kullmann, D.M.5
  • 77
    • 0029055254 scopus 로고
    • Action potentials and membrane currents in the human node of Ranvier
    • Schwarz J.R., Reid G., and Bostock H. Action potentials and membrane currents in the human node of Ranvier. Pflugers Arch 430 (1995) 283-292
    • (1995) Pflugers Arch , vol.430 , pp. 283-292
    • Schwarz, J.R.1    Reid, G.2    Bostock, H.3
  • 78
    • 39749160662 scopus 로고    scopus 로고
    • Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea
    • Shook S.J., Mamsa H., Jen J.C., Baloh R.W., and Zhou L. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle Nerve 37 (2008) 399-402
    • (2008) Muscle Nerve , vol.37 , pp. 399-402
    • Shook, S.J.1    Mamsa, H.2    Jen, J.C.3    Baloh, R.W.4    Zhou, L.5
  • 79
    • 13444249849 scopus 로고    scopus 로고
    • Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia
    • Spacey S., Materek L., Szczygielski B.I., and Bird T.D. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 62 (2005) 314-316
    • (2005) Arch Neurol , vol.62 , pp. 314-316
    • Spacey, S.1    Materek, L.2    Szczygielski, B.I.3    Bird, T.D.4
  • 80
    • 2342663131 scopus 로고    scopus 로고
    • Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
    • Strupp M., Kalla R., Dichgans M., Freilinger T., Glasauer S., and Brandt T. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 62 (2004) 1623-1625
    • (2004) Neurology , vol.62 , pp. 1623-1625
    • Strupp, M.1    Kalla, R.2    Dichgans, M.3    Freilinger, T.4    Glasauer, S.5    Brandt, T.6
  • 82
    • 49349110019 scopus 로고    scopus 로고
    • Aminopyridines for the treatment of cerebellar and ocular motor disorders
    • Strupp M., Kalla R., Glasauer S., Wagner J., Hüfner K., Jahn K., et al. Aminopyridines for the treatment of cerebellar and ocular motor disorders. Prog Brain Res 171 (2008) 535-541
    • (2008) Prog Brain Res , vol.171 , pp. 535-541
    • Strupp, M.1    Kalla, R.2    Glasauer, S.3    Wagner, J.4    Hüfner, K.5    Jahn, K.6
  • 84
    • 0026607922 scopus 로고
    • P-type voltage-dependent calcium channel mediates presynaptic calcium influx and transmitter release in mammalian synapses
    • Uchitel O.D., Protti D.A., Sanchez V., Cherksey B.D., Sugimori M., and Llinas R. P-type voltage-dependent calcium channel mediates presynaptic calcium influx and transmitter release in mammalian synapses. Proc Natl Acad Sci USA 89 (1992) 3330-3333
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 3330-3333
    • Uchitel, O.D.1    Protti, D.A.2    Sanchez, V.3    Cherksey, B.D.4    Sugimori, M.5    Llinas, R.6
  • 85
    • 0025853957 scopus 로고
    • Hereditary paroxysmal ataxia with neuromyotonia
    • Vaamonde J., Artieda J., and Obeso J.A. Hereditary paroxysmal ataxia with neuromyotonia. Mov Disord 2 (1991) 180-182
    • (1991) Mov Disord , vol.2 , pp. 180-182
    • Vaamonde, J.1    Artieda, J.2    Obeso, J.A.3
  • 86
    • 55949121591 scopus 로고    scopus 로고
    • Localization and targeting of voltage-dependent ion channels in Mammalian central neurons
    • Vacher H., Mohapatra D.P., and Trimmer J.S. Localization and targeting of voltage-dependent ion channels in Mammalian central neurons. Physiol Rev 88 (2008) 1407-1447
    • (2008) Physiol Rev , vol.88 , pp. 1407-1447
    • Vacher, H.1    Mohapatra, D.P.2    Trimmer, J.S.3
  • 87
    • 0032520860 scopus 로고    scopus 로고
    • Activity-dependent hyperpolarization of motor axons produced by natural activity
    • Vagg R., Mogyoros I., Kiernan M.C., and Burke D. Activity-dependent hyperpolarization of motor axons produced by natural activity. J Physiol 507 (1998) 919-925
    • (1998) J Physiol , vol.507 , pp. 919-925
    • Vagg, R.1    Mogyoros, I.2    Kiernan, M.C.3    Burke, D.4
  • 90
    • 58149144754 scopus 로고    scopus 로고
    • Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia
    • Veneziano L., Guida S., Mantuano E., Bernard P., Tarantino P., Boccone L., et al. Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. J Neurol Sci 276 (2009) 31-37
    • (2009) J Neurol Sci , vol.276 , pp. 31-37
    • Veneziano, L.1    Guida, S.2    Mantuano, E.3    Bernard, P.4    Tarantino, P.5    Boccone, L.6
  • 91
    • 21144442723 scopus 로고    scopus 로고
    • CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics
    • Wan J., Khanna R., Sandusky M., Papazian D.M., Jen J.C., and Baloh R.W. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology 64 (2005) 2090-2097
    • (2005) Neurology , vol.64 , pp. 2090-2097
    • Wan, J.1    Khanna, R.2    Sandusky, M.3    Papazian, D.M.4    Jen, J.C.5    Baloh, R.W.6
  • 93
    • 0014478442 scopus 로고
    • Familial periodic nystagmus, vertigo, and ataxia
    • White J.C. Familial periodic nystagmus, vertigo, and ataxia. Arch Neurol 20 (1969) 276-280
    • (1969) Arch Neurol , vol.20 , pp. 276-280
    • White, J.C.1
  • 95
    • 0032557725 scopus 로고    scopus 로고
    • De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
    • Yue Q., Jen J.C., Thwe M.M., Nelson S.F., and Baloh R.W. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet 77 (1998) 298-301
    • (1998) Am J Med Genet , vol.77 , pp. 298-301
    • Yue, Q.1    Jen, J.C.2    Thwe, M.M.3    Nelson, S.F.4    Baloh, R.W.5
  • 96
    • 0032563280 scopus 로고    scopus 로고
    • Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel
    • Zerr P., Adelman J.P., and Maylie J. Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS Lett 431 (1998) 461-464
    • (1998) FEBS Lett , vol.431 , pp. 461-464
    • Zerr, P.1    Adelman, J.P.2    Maylie, J.3
  • 97
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage dependent calcium channel
    • Zhuchenko O., Bailey J., Bonnen P., Ashizawa T., Stockton D.W., Amos C., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage dependent calcium channel. Nat Genet 15 (1997) 62-69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6
  • 98
    • 0020557401 scopus 로고
    • Acetazolamide-responsive episodic ataxia syndrome
    • Zasorin N.L., Baloh R.W., and Myers L.B. Acetazolamide-responsive episodic ataxia syndrome. Neurology 33 (1983) 1212-1214
    • (1983) Neurology , vol.33 , pp. 1212-1214
    • Zasorin, N.L.1    Baloh, R.W.2    Myers, L.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.