-
1
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994; 8:136-140.
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
2
-
-
0023225798
-
Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila
-
Papazian DM, Schwarz TL, Tempel BL, et al. Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila. Science 1987; 237:749-753.
-
(1987)
Science
, vol.237
, pp. 749-753
-
-
Papazian, D.M.1
Schwarz, T.L.2
Tempel, B.L.3
-
3
-
-
0027424441
-
+ channels in terminal and juxtaparanodal regions of neurons
-
+ channels in terminal and juxtaparanodal regions of neurons. Nature 1993; 365:75-79.
-
(1993)
Nature
, vol.365
, pp. 75-79
-
-
Wang, H.1
Kunkel, D.D.2
Martin, T.M.3
-
4
-
-
0029560754
-
Episodic ataxia results from voltage-dependent potassium channels with altered functions
-
Adelman JP, Bond CT, Pessia M, Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 1995; 15:1449-1454.
-
(1995)
Neuron
, vol.15
, pp. 1449-1454
-
-
Adelman, J.P.1
Bond, C.T.2
Pessia, M.3
Maylie, J.4
-
5
-
-
0036400556
-
+ channel subunit dysfunction in inherited mutations of KCNA1
-
+ channel subunit dysfunction in inherited mutations of KCNA1. J Physiol 2002; 538:5-23.
-
(2002)
J Physiol
, vol.538
, pp. 5-23
-
-
Rea, R.1
Spauschus, A.2
Eunson, L.H.3
-
7
-
-
0023716266
-
Familial periodic ataxia responsive to flunarizine
-
Boel M, Casaer P. Familial periodic ataxia responsive to flunarizine. Neuropediatrics 1988; 19:218-220.
-
(1988)
Neuropediatrics
, vol.19
, pp. 218-220
-
-
Boel, M.1
Casaer, P.2
-
8
-
-
2342663131
-
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
-
Strupp M, Kalla R, Dichgans M, et al. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 2004; 62:1623-1625.
-
(2004)
Neurology
, vol.62
, pp. 1623-1625
-
-
Strupp, M.1
Kalla, R.2
Dichgans, M.3
-
9
-
-
0028841501
-
Is familial hemiplegic migraine a hereditary form of basilar migraine?
-
Haan J, Terwindt GM, Ophoff RA, et al. Is familial hemiplegic migraine a hereditary form of basilar migraine? Cephalalgia 1995; 15:477-481.
-
(1995)
Cephalalgia
, vol.15
, pp. 477-481
-
-
Haan, J.1
Terwindt, G.M.2
Ophoff, R.A.3
-
10
-
-
0031015937
-
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
-
12
-
-
0025775195
-
Primary structure and functional expression from complementary DNA of a brain calcium channel
-
Mori Y, Friedrich T, Kim MS, et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 1991; 350: 398-402.
-
(1991)
Nature
, vol.350
, pp. 398-402
-
-
Mori, Y.1
Friedrich, T.2
Kim, M.S.3
-
14
-
-
0035811775
-
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
-
Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001; 345:17-24.
-
(2001)
N Engl J Med
, vol.345
, pp. 17-24
-
-
Ducros, A.1
Denier, C.2
Joutel, A.3
-
15
-
-
0032975258
-
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
-
Denier C, Ducros A, Vahedi K, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999; 52:1816-1821.
-
(1999)
Neurology
, vol.52
, pp. 1816-1821
-
-
Denier, C.1
Ducros, A.2
Vahedi, K.3
-
16
-
-
0347722572
-
Clinical spectrum of episodic ataxia type 2
-
Jen JC, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004; 62:17-22.
-
(2004)
Neurology
, vol.62
, pp. 17-22
-
-
Jen, J.C.1
Kim, G.W.2
Baloh, R.W.3
-
17
-
-
0031012399
-
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; 15:62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
18
-
-
0035940624
-
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus
-
Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001; 57: 1499-1502.
-
(2001)
Neurology
, vol.57
, pp. 1499-1502
-
-
Steckley, J.L.1
Ebers, G.C.2
Cader, M.Z.3
McLachlan, R.S.4
-
19
-
-
22044455177
-
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
-
Cader MZ, Steckley JL, Dyment DA, et al. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 2005; 65:156-158.
-
(2005)
Neurology
, vol.65
, pp. 156-158
-
-
Cader, M.Z.1
Steckley, J.L.2
Dyment, D.A.3
-
20
-
-
0001354047
-
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations
-
Farmer TW, Mustian VM. Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. Arch Neurol 1963; 8:471-480.
-
(1963)
Arch Neurol
, vol.8
, pp. 471-480
-
-
Farmer, T.W.1
Mustian, V.M.2
-
21
-
-
0029922495
-
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
-
Damji KF, Allingham RR, Pollock SC, et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 1996; 53:338-344.
-
(1996)
Arch Neurol
, vol.53
, pp. 338-344
-
-
Damji, K.F.1
Allingham, R.R.2
Pollock, S.C.3
-
22
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24:343-345.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
-
23
-
-
23844500344
-
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
-
Jen JC, Wan J, Palos TP, et al. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005; 65:529-534.
-
(2005)
Neurology
, vol.65
, pp. 529-534
-
-
Jen, J.C.1
Wan, J.2
Palos, T.P.3
-
24
-
-
34248995041
-
A new episodic ataxia syndrome with linkage to chromosome 19q13
-
Kerber KA, Jen JC, Lee H, et al. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 2007; 64:749-752.
-
(2007)
Arch Neurol
, vol.64
, pp. 749-752
-
-
Kerber, K.A.1
Jen, J.C.2
Lee, H.3
-
25
-
-
13544275581
-
Acute migrainous vertigo: Clinical and oculographic findings
-
Von Brevern M, Zeise D, Neuhauser H, et al. Acute migrainous vertigo: clinical and oculographic findings. Brain 2005; 128:365-374.
-
(2005)
Brain
, vol.128
, pp. 365-374
-
-
Von Brevern, M.1
Zeise, D.2
Neuhauser, H.3
-
26
-
-
25444463930
-
Epidemiology of vestibular vertigo: A neurotologic survey of the general population
-
Neuhauser HK, von Brevern M, Radtke A, et al. Epidemiology of vestibular vertigo: a neurotologic survey of the general population. Neurology 2005; 65:898-904.
-
(2005)
Neurology
, vol.65
, pp. 898-904
-
-
Neuhauser, H.K.1
von Brevern, M.2
Radtke, A.3
-
27
-
-
33749015719
-
-
Neuhauser HK, Radtke A, Von Brevern M, et al. Migrainous vertigo: prevalence and impact on quality of life. Neurology 2006; 67:1028-1033. A large epidemiological study (with more than 4800 subjects) that showed that migrainous vertigo was underdiagnosed with notable impact on quality of life.
-
Neuhauser HK, Radtke A, Von Brevern M, et al. Migrainous vertigo: prevalence and impact on quality of life. Neurology 2006; 67:1028-1033. A large epidemiological study (with more than 4800 subjects) that showed that migrainous vertigo was underdiagnosed with notable impact on quality of life.
-
-
-
-
28
-
-
2942525883
-
No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
-
Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol 2004; 61:926-928.
-
(2004)
Arch Neurol
, vol.61
, pp. 926-928
-
-
Jen, J.C.1
Kim, G.W.2
Dudding, K.A.3
Baloh, R.W.4
-
29
-
-
33745628333
-
Migrainous vertigo: Mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4
-
To date, the most thorough candidate gene screening in patients with migrainous vertigo for nucleotide variations in genes associated with familial hemiplegic migraine
-
Von Brevern M, Ta N, Shankar A, et al. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache 2006; 46:1136-1141. To date, the most thorough candidate gene screening in patients with migrainous vertigo for nucleotide variations in genes associated with familial hemiplegic migraine.
-
(2006)
Headache
, vol.46
, pp. 1136-1141
-
-
Von Brevern, M.1
Ta, N.2
Shankar, A.3
-
30
-
-
31144435953
-
-
Lee H, Jen JC, Wang H, et al. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet 2006; 15:251-258. The first effort in identifying susceptibility loci by genome scan in subjects with familial BRV, demonstrating marked genetic heterogeneity.
-
Lee H, Jen JC, Wang H, et al. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet 2006; 15:251-258. The first effort in identifying susceptibility loci by genome scan in subjects with familial BRV, demonstrating marked genetic heterogeneity.
-
-
-
-
31
-
-
34447307121
-
Association of progesterone receptor with migraine-associated vertigo
-
Lee H, Sininger L, Jen JC, et al. Association of progesterone receptor with migraine-associated vertigo. Neurogenetics 2007; 8:195-200.
-
(2007)
Neurogenetics
, vol.8
, pp. 195-200
-
-
Lee, H.1
Sininger, L.2
Jen, J.C.3
-
32
-
-
0028013752
-
Familial vestibulopathy: A new dominantly inherited syndrome
-
Baloh RW, Jacobson K, Fife T. Familial vestibulopathy: a new dominantly inherited syndrome. Neurology 1994; 44:20-25.
-
(1994)
Neurology
, vol.44
, pp. 20-25
-
-
Baloh, R.W.1
Jacobson, K.2
Fife, T.3
-
33
-
-
0042928502
-
Familial early-onset progressive vestibulopathy without hearing impairment
-
Brantberg K. Familial early-onset progressive vestibulopathy without hearing impairment. Acta Otolaryngol 2003; 123:713-717.
-
(2003)
Acta Otolaryngol
, vol.123
, pp. 713-717
-
-
Brantberg, K.1
-
34
-
-
19944368734
-
Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy
-
Jen JC, Wang H, Lee H, et al. Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. Neurology 2004; 63:2376-2379.
-
(2004)
Neurology
, vol.63
, pp. 2376-2379
-
-
Jen, J.C.1
Wang, H.2
Lee, H.3
-
37
-
-
17344363707
-
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
-
Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 1998; 20:299-303.
-
(1998)
Nat Genet
, vol.20
, pp. 299-303
-
-
Robertson, N.G.1
Lu, L.2
Heller, S.3
-
38
-
-
0036162703
-
Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation
-
Tamagawa Y, Ishikawa K, Ishikawa K, et al. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope 2002; 112:292-297.
-
(2002)
Laryngoscope
, vol.112
, pp. 292-297
-
-
Tamagawa, Y.1
Ishikawa, K.2
Ishikawa, K.3
-
39
-
-
0032837049
-
High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene
-
Fransen E, Verstreken M, Verhagen WI, et al. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. Hum Mol Genet 1999; 8:1425-1429.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1425-1429
-
-
Fransen, E.1
Verstreken, M.2
Verhagen, W.I.3
-
42
-
-
24544463054
-
Migraine and Ménière's disease
-
Harris J, editor, The Hague: Kugler;
-
Baloh R, Andrews J. Migraine and Ménière's disease. In: Harris J, editor. Ménière's disease. The Hague: Kugler; 1999. pp. 281-289.
-
(1999)
Ménière's disease
, pp. 281-289
-
-
Baloh, R.1
Andrews, J.2
-
43
-
-
0037058773
-
Migraine and Meniere's disease: Is there a link?
-
Radtke A, Lempert T, Gresty MA, et al. Migraine and Meniere's disease: is there a link? Neurology 2002; 59:1700-1704.
-
(2002)
Neurology
, vol.59
, pp. 1700-1704
-
-
Radtke, A.1
Lempert, T.2
Gresty, M.A.3
-
44
-
-
36448929144
-
The relevance of migraine in patients with Meniere's disease
-
8 May [Epub ahead of print
-
Cha YH, Brodsky J, Ishiyama G, et al. The relevance of migraine in patients with Meniere's disease. Acta Otolaryngol 2007; 8 May [Epub ahead of print].
-
(2007)
Acta Otolaryngol
-
-
Cha, Y.H.1
Brodsky, J.2
Ishiyama, G.3
-
45
-
-
0000238203
-
Ménière's syndrome
-
Brown M. Ménière's syndrome. Arch Neurol Psychiatry 1941; 46:561-565.
-
(1941)
Arch Neurol Psychiatry
, vol.46
, pp. 561-565
-
-
Brown, M.1
-
46
-
-
0013838435
-
Occurrence of episodic vertigo and hearing loss in families
-
Bernstein JM. Occurrence of episodic vertigo and hearing loss in families. Ann Otol Rhinol Laryngol 1965; 74:1011-1021.
-
(1965)
Ann Otol Rhinol Laryngol
, vol.74
, pp. 1011-1021
-
-
Bernstein, J.M.1
-
47
-
-
0023371561
-
Familial Meniere's disease: A genetic investigation
-
Birgerson L, Gustavson KH, Stahle J. Familial Meniere's disease: a genetic investigation. Am J Otol 1987; 8:323-326.
-
(1987)
Am J Otol
, vol.8
, pp. 323-326
-
-
Birgerson, L.1
Gustavson, K.H.2
Stahle, J.3
-
48
-
-
0028988920
-
Anticipation in Meniere's disease
-
Morrison AW. Anticipation in Meniere's disease. J Laryngol Otol 1995; 109:499-502.
-
(1995)
J Laryngol Otol
, vol.109
, pp. 499-502
-
-
Morrison, A.W.1
-
49
-
-
33746859854
-
Familial Meniere's disease in five generations
-
Frykholm C, Larsen HC, Dahl N, et al. Familial Meniere's disease in five generations. Otol Neurotol 2006; 27:681-686.
-
(2006)
Otol Neurotol
, vol.27
, pp. 681-686
-
-
Frykholm, C.1
Larsen, H.C.2
Dahl, N.3
-
50
-
-
33846369505
-
Inheritance of Meniere's disease in the Finnish population
-
Klockars T, Kentala E. Inheritance of Meniere's disease in the Finnish population. Arch Otolaryngol Head Neck Surg 2007; 133:73-77.
-
(2007)
Arch Otolaryngol Head Neck Surg
, vol.133
, pp. 73-77
-
-
Klockars, T.1
Kentala, E.2
-
52
-
-
33745790726
-
-
Klar J, Frykholm C, Friberg U, Dahl N. A Meniere's disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet 2006; 141:463-467. Linkage study in a multigenerational kindred.
-
Klar J, Frykholm C, Friberg U, Dahl N. A Meniere's disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet 2006; 141:463-467. Linkage study in a multigenerational kindred.
-
-
-
|