ライフサイエンスコーパス: channelopathy

1 tion of the functional phenotype of a sodium channelopathy.

2 ns, we hypothesized that TPP might also be a channelopathy.

3 is the commonest genetic skeletal muscle ion channelopathy.

4 igenic dyskinesia has been shown not to be a channelopathy.

5 first example of a novel class of autoimmune channelopathy.

6 therapeutic approaches for treatment of this channelopathy.

7 confirms that the disorder is a postsynaptic channelopathy.

8 ilure, illustrating a mechanism for acquired channelopathy.

9 f a new chloride channel family and VMD as a channelopathy.

10 rdia is an uncommon, potentially lethal, ion channelopathy.

11 idence-based treatment for a skeletal muscle channelopathy.

12 entially lethal but highly treatable cardiac channelopathy.

13 cellular mechanisms underlying an inherited channelopathy.

14 ng in a unique clinical syndrome termed CRAC channelopathy.

15 ine, that share features with rare monogenic channelopathies.

16 annels or their interacting proteins, termed channelopathies.

17 he nondystrophic myotonias, and other muscle channelopathies.

18 thophysiology associated with the respective channelopathies.

19 ion of ion channels is linked to a myriad of channelopathies.

20 loping new drugs for treating pain and Na(v) channelopathies.

21 broader impact of gating pore current in ion channelopathies.

22 make a precise molecular diagnosis in muscle channelopathies.

23 the molecular basis of a distinct set of Kv7 channelopathies.

24 e. SUD) and most likely secondary to cardiac channelopathies.

25 ts or regulatory proteins are referred to as channelopathies.

26 perone that rescues channel function in some channelopathies.

27 f protein misfolding, a fundamental cause of channelopathies.

28 clinical features of inherited neurological channelopathies.

29 epilepsies have emerged as a new category of channelopathies.

30 cause disease conditions collectively termed channelopathies.

31 adds ET to the growing list of neurological channelopathies.

32 posttranslational modifications in acquired channelopathies.

33 ial to provide important insight into sodium channelopathies.

34 neuromuscular symptoms collectively known as channelopathies.

35 nic mechanisms, even in inherited, monogenic channelopathies.

36 physiological aspects of the skeletal muscle channelopathies.

37 eart disorders, such as cardiomyopathies and channelopathies.

38 can serve as a therapeutic target for sodium channelopathies.

39 elucidate the phenotypic spectrum of Nav1.9 channelopathies.

40 nd therapy for a range of debilitating Na(V) channelopathies.

41 s and targets to treat and/or prevent sodium channelopathies.

42 a variety of neurological and cardiovascular channelopathies.

43 rrhythmogenic right ventricular dysplasia or channelopathies.

44 provide new insights into the mechanisms of channelopathies.

45 es are responsible for a growing spectrum of channelopathies.

46 These included the following: (1) Na+ channelopathies; (2) arrhythmias due to K+ channel mutat

47 the growing number of diseases identified as channelopathies, 3 are sufficiently prevalent to represe

48 , and metabolic mechanisms of this heritable channelopathy - a heterogeneity that is reflected in the

49 However, as for the muscle channelopathies, a striking feature is that many neurona

50 Genetic neuronal channelopathies affecting peripheral axons provide a uni

51 view focuses on the pathogenic mechanisms of channelopathies affecting skeletal muscle and brain aris

52 ly relevant cellular perturbations in muscle channelopathies affecting the muscle-specific sodium-cha

53 The channelopathies also show evidence of phenotypic diverge

54 urgent currents are associated with multiple channelopathies and are likely to be important contribut

55 role in non-long-QT syndrome arrhythmogenic channelopathies and cardiomyopathies is less clear.

56 ologic functions of K(+) channels or related channelopathies and for restoring axonal conduction in d

57 as a disease-causing mechanism in the muscle channelopathies and have allowed new correlations to be

58 istics reflecting those of inherited cardiac channelopathies and most likely amount to impaired repol

59 n gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demog

60 lecular Autopsy) and surveillance of cardiac channelopathy and cardiomyopathy genes represents the la

61 wever, the mechanistic basis of the chloride channelopathy and its relationship to the development of

62 Our studies identify a type of channelopathy and link the dysfunction of mechanically a

63 Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also

64 ession is a novel mechanism that leads to BK channelopathy and vasculopathy in diabetes.

65 ed in AF, the Mendelian cardiomyopathies and channelopathies, and all ion channels within the genome.

66 s in Na+ channels contributes to several ion channelopathies, and gating pore current conducted by mu

67 typic diseases observed in the muscle sodium channelopathies, and, given that homologous residues are

68 s zoster), nerve compression, nerve trauma, "channelopathies," and autoimmune disease are examples of

69 Ion channelopathies are a diverse array of human disorders c

70 Channelopathies are a diverse set of disorders associate

71 Inherited channelopathies are at the origin of many neurological d

72 mechanistic understanding of skeletal muscle channelopathies are being translated into improved thera

73 But with this new information, autoimmune channelopathies are detected and treated with increasing

74 Ion channelopathies are inherited diseases in which alterati

75 Typically, neurological channelopathies are inherited in an autosomal dominant f

76 Although the vast majority of channelopathies are linked with inherited mutations that

77 function and clinical status associated with channelopathies are not necessarily predictable solely f

78 Improvements in treatment of the muscle channelopathies are on the horizon.

79 Human Nav channelopathies are primarily caused by variants that di

80 Cardiac ion channelopathies are responsible for an ever-increasing n

81 At present the best understood channelopathies are those that affect muscle-fibre excit

82 l management has been as great as in cardiac channelopathies, arrhythmic disorders of genetic origin

83 s, and is unique in that it incorporates ion channelopathies as a primary cardiomyopathy in consensus

84 indings identify calcium-activated potassium channelopathy as a cause of cortical dysfunction in the

85 that cancer constitutes another category of channelopathies associated with dysregulated channel exp

86 ts were identified in 29 (17%) patients (60% channelopathy-associated and 40% cardiomyopathy-associat

87 in SCN9A, the gene encoding Na(V)1.7, cause channelopathy-associated indifference to pain (CIP), whe

88 reviously unexplored mechanism for human Nav channelopathy based on altered Nav1.5 association with F

89 elopathy) except LQT4, which is a functional channelopathy because of mutations in ankyrin-B.

90 Together, these results show that HCN1 channelopathy begins rapidly and persists after SE, invo

91 We conclude that SE produces an acquired channelopathy by inducing long-term alterations in thala

92 We also investigated the link between Kv1.5 channelopathy, [Ca2+]i, and AF.

93 nt years has shown that genetic neurological channelopathies can cause many different neurological di

94 l cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurolo

95 nts provide additional evidence that calcium channelopathies can produce paroxysmal dyskinesias and p

96 Neuronal channelopathies cause brain disorders, including epileps

97 es, a striking feature is that many neuronal channelopathies cause paroxysmal symptoms.

98 The Ca(2+) channelopathies caused by mutations of the CACNA1A gene

99 s (hypoPP) is the archetypal skeletal muscle channelopathy caused by dysfunction of one of two sarcol

100 ave shown that familial erythromelalgia is a channelopathy caused by mutations in the gene encoding t

101 Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene enco

102 nel-encoding gene, adds to a growing list of channelopathies causing paroxysmal neurologic disturbanc

103 al dominant central nervous system potassium channelopathy characterized by brief attacks of cerebell

104 Long-QT syndrome is an inherited cardiac channelopathy characterized by delayed repolarization, r

105 A second class of channelopathies, characterized by autoantibodies against

106 re, our patients appear to suffer from a new channelopathy comprised of ID, seizures and cardiac prob

107 SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemi

108 The investigation of such 'channelopathies' continues to yield remarkable insights

109 TION: Our results add to the evidence that a channelopathy contributes to cerebellar dysfunction in M

110 Acquired HCN1 channelopathy derives from NRSF-mediated transcriptional

111 ciliopathies as well as cohesinopathies and channelopathies, discuss possibilities for the functiona

112 e has been a parallel advance in research on channelopathies (diseases resulting from impaired channe

113 absence epilepsy caused by a P/Q-type Ca(2+) channelopathy due to a missense mutation in the Cacna1a

114 nce that an 'overlap' exists among inherited channelopathies, especially those involving the sodium a

115 This first report of Kv1.5 loss-of-function channelopathy establishes KCNA5 mutation as a novel risk

116 ent primary cardiac channel defects (ie, ion channelopathy) except LQT4, which is a functional channe

117 e main features of the most common inherited channelopathies, focusing on the findings that advanced

118 l encode ion channels and are referred to as channelopathy genes.

119 the molecular pathogenesis of muscle sodium channelopathies has been revealed by the finding of 'lea

120 However, a new class of human Nav channelopathies has emerged based on channel variants th

121 Dissecting the pathogenesis of these 'channelopathies' has yielded important insights into the

122 Recent discoveries in the skeletal muscle channelopathies have increased our understanding of the

123 kcne3 are linked to congenital and acquired channelopathies in Homo sapiens.

124 Calcium channelopathies in the central nervous system provide a

125 oduces a mutant vascular phenotype akin to a channelopathy in a genetic model of SVD.

126 a molecular substrate for stress-associated channelopathy in cardiovascular disease.

127 large-animal model of a human cardiac sodium channelopathy in pigs, which have cardiac structure and

128 ed as a modifier of the severity of a sodium channelopathy in the mouse.

129 Thus, the severe ClC-1 channelopathy in young HSA(LR) animals is slowly reverse

130 ion of these processes underlies diverse ion channelopathies including cardiac arrhythmias and cystic

131 s, potentially shedding light on other Orai1 channelopathies, including anhidrosis (an inability to s

132 -function mutations in Na(v)1.5 cause sodium channelopathies, including Brugada syndrome, dilated car

133 specific channels underlie a diverse set of channelopathies, including cardiac arrhythmias and epile

134 hannel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and

135 ocopies many aspects of human cardiac sodium channelopathy, including conduction slowing and increase

136 Animal models of monogenic channelopathies increasingly help our understanding.

137 se a novel hypothesis of respiratory neurone channelopathy induced by carotid body overactivity in ne

138 nels in the generation of neuronal activity, channelopathies involving sodium channels might be expec

139 The concept of channelopathies is not restricted to genetic disorders;

140 One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhoo

141 Such acquired channelopathy is likely to amplify neuronal activity and

142 The list of these "channelopathies" is expanding rapidly, as is the phenoty

143 The list of confirmed 'channelopathies' is growing and several members of the T

144 c (e.g., inherited gain-of-function mutation channelopathies, ischemia, and chronic and vagally media

145 chondrial mATP6/8 genes, have been linked to channelopathy-like episodic weakness.

146 Our results suggest that ion channelopathies may be involved in the pathogenesis of b

147 Acquired sodium channelopathy may be the mechanism underlying acute neur

148 en demyelinated, suggesting that an acquired channelopathy may contribute to the pathophysiology of d

149 s that episodic ataxia type 2, a P/Q calcium channelopathy, may be phenotypically modulated by endocr

150 nt death syndrome (SIDS) cases may stem from channelopathy-mediated lethal arrhythmias.

151 The human TRPV4(V620I) channelopathy mutation was transfected into primary porc

152 as to determine the mechanism by which TRPV4 channelopathy mutations cause skeletal dysplasia.

153 ic cardiomyopathy, and most probably genetic channelopathies, NSVT carries prognostic significance, w

154 ions indicate that the myotonia and chloride channelopathy observed in DM both result from abnormal a

155 Channelopathies of autoimmune origin are novel and are a

156 nign familial neonatal convulsions and other channelopathies of skeletal and cardiac muscle, includin

157 of voltage-gated ion channels cause several channelopathies of skeletal muscle, which present clinic

158 on, neuronal function and clinical status in channelopathies of the nervous system?

159 ing mechanisms of ion permeation, gating and channelopathy of cyclic-nucleotide-gated channels and cy

160 model stem from a gain-of-function chloride channelopathy of glial cells.

161 alemic periodic paralysis (HypoPP) is an ion channelopathy of skeletal muscle characterized by attack

162 To determine the effects of a human connexin channelopathy on cardiac electrophysiology and arrhythmo

163 altered BK channel expression is an acquired channelopathy or a compensatory mechanism affecting the

164 In diagnosed channelopathy or arrhythmogenic right ventricular cardio

165 These observations have cemented the channelopathy paradigm, in which episodic disorders are

166 clarified the role of gating pore current in channelopathy pathogenesis.

167 Ion channelopathy plays an important role in human epilepsy

168 e unaffected in many paroxysmal neurological channelopathies, possibly explained by homoeostatic plas

169 These channelopathies produce a range of disorders which inclu

170 Recognizing the fundamental defects in channelopathies provides the basis for new strategies of

171 based on the diverse roles of ion channels, channelopathies range from inherited cardiac arrhythmias

172 The term 'channelopathy' refers to human genetic disorders caused

173 Brain channelopathies represent a growing class of brain disor

174 Several human channelopathies result from mutations in alpha1A, the po

175 A survey of other ion channelopathies reveals numerous examples of mutations t

176 Channelopathies (short and long QT, Brugada, and catecho

177 The discovery of these and other calcium channelopathies should help to clarify how different mut

178 The neuronal channelopathies show evidence of phenotypic convergence;

179 uring the past 2 years, a new chapter in the channelopathy story has been opened with the identificat

180 s treatments to prevent CFAs associated with channelopathies such as ATS.

181 ant death syndrome, can be caused by cardiac channelopathies such as Brugada syndrome (BrS).

182 ion channel replacement therapy in treating channelopathies such as cystic fibrosis (CF).

183 LCA1 VWA domain in loss-of-function chloride channelopathies such as cystic fibrosis.

184 efficacy in channel replacement therapy for channelopathies such as cystic fibrosis.

185 id the development of compounds for treating channelopathies such as cystic fibrosis.

186 logical activity, including the treatment of channelopathies such as cystic fibrosis.

187 hypertrophic cardiomyopathy (HCM) or cardiac channelopathies such as long-QT syndrome (LQTS); however

188 ogenetic mechanism for genetically inherited channelopathies, such as benign familial neonatal seizur

189 KCNQ1 or KCNE subunits can cause congenital channelopathies, such as deafness, cardiac arrhythmias a

190 ed postmortem genetic testing of the 4 major channelopathy-susceptibility genes (KCNQ1, KCNH2, SCN5A,

191 specificity, genetic heterogeneity underlies channelopathies that are suspected chiefly because of a

192 e insight into the mechanisms of a number of channelopathies that coexist with, and may contribute to

193 mary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance an

194 ardiomyopathies that cause heart failure and channelopathies that underlie cardiac arrhythmias, have

195 Channelopathies that underlie monogenic human pain syndr

196 drome (LQTS) is a potentially lethal cardiac channelopathy that can be mistaken for palpitations, neu

197 Here we report a form of channelopathy that is acquired in experimental temporal

198 ne models of CNGB3 achromatopsia, a neuronal channelopathy that is the most common form of achromatop

199 utism, at least partially, by inducing an Ih channelopathy that may be amenable to pharmacological in

200 CNGB3 mutations cause a channelopathy that results in impaired cone function man

201 Brugada syndrome is a potentially serious channelopathy that usually presents in adulthood and has

202 eagues present a pig model of cardiac sodium channelopathy that was generated by introducing a human

203 In all autoimmune channelopathies, the relationship between autoantibody s

204 ver, in many cases, and especially in sodium channelopathies, the results from genomic sequencing can

205 e post-mortem molecular diagnosis of cardiac channelopathies through the use of a molecular autopsy h

206 Insights into such channelopathies thus provide us with a number of potenti

207 ngs have recently been made in the field of "channelopathies." Understanding these diseases on the mo

208 In 1995, the discipline of cardiac channelopathies was born with the revelation that mutati

209 ated that an autoantibody-mediated potassium channelopathy was likely to be the cause of their disord

210 The sodium channelopathies were among the first recognized ion chan

211 , negative for ischemia, cardiomyopathy, and channelopathy) were reviewed.

212 T syndrome (LQTS) is the most common cardiac channelopathy with 15 elucidated LQTS-susceptibility gen

213 drome (LQTS) is a potentially lethal cardiac channelopathy with a 1% to 5% annual risk of LQTS-trigge

214 c ventricular tachycardia (CPVT1), a cardiac channelopathy with increased propensity for lethal ventr

215 editary long QT syndrome (LQTS) is a genetic channelopathy with variable penetrance that is associate

216 clinical features of the known neurological channelopathies, within the context of the functions of