ライフサイエンスコーパス: channelopathy

1 arrhythmia syndromes (also known as cardiac channelopathies).

2 entially lethal but highly treatable cardiac channelopathy.

3 cellular mechanisms underlying an inherited channelopathy.

4 ng in a unique clinical syndrome termed CRAC channelopathy.

5 tion of the functional phenotype of a sodium channelopathy.

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

7 entially lethal yet highly treatable cardiac channelopathy.

8 is the commonest genetic skeletal muscle ion channelopathy.

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

10 first example of a novel class of autoimmune channelopathy.

11 therapeutic approaches for treatment of this channelopathy.

12 confirms that the disorder is a postsynaptic channelopathy.

13 ilure, illustrating a mechanism for acquired channelopathy.

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

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

16 idence-based treatment for a skeletal muscle channelopathy.

17 eart disorders, such as cardiomyopathies and channelopathies.

18 can serve as a therapeutic target for sodium channelopathies.

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

20 a variety of neurological and cardiovascular channelopathies.

21 rrhythmogenic right ventricular dysplasia or channelopathies.

22 provide new insights into the mechanisms of channelopathies.

23 es are responsible for a growing spectrum of channelopathies.

24 ine, that share features with rare monogenic channelopathies.

25 annels or their interacting proteins, termed channelopathies.

26 he nondystrophic myotonias, and other muscle channelopathies.

27 thophysiology associated with the respective channelopathies.

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

29 broader impact of gating pore current in ion channelopathies.

30 make a precise molecular diagnosis in muscle channelopathies.

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

32 mplications for the pathophysiology of human channelopathies.

33 e-modulated channels and CNG channel-related channelopathies.

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

35 ts or regulatory proteins are referred to as channelopathies.

36 perone that rescues channel function in some channelopathies.

37 f protein misfolding, a fundamental cause of channelopathies.

38 ivation as well as their mutants involved in channelopathies.

39 gating pore currents reminiscent of several channelopathies.

40 epilepsies have emerged as a new category of channelopathies.

41 cause disease conditions collectively termed channelopathies.

42 herapeutics as anticancer agents or to treat channelopathies.

43 and as potential therapeutics for cancer and channelopathies.

44 d to vision-threatening retinal degenerative channelopathies.

45 from new insights into mechanisms of sodium channelopathies.

46 nderstanding of the pathophysiology of TRPV4 channelopathies.

47 omplex arrhythmogenic phenotypes of Na(V)1.5 channelopathies.

48 systems will be critical in the treatment of channelopathies.

49 and inform precision treatment across sodium channelopathies.

50 ble predictions for future study of h- and m-channelopathies.

51 elucidate the phenotypic spectrum of Nav1.9 channelopathies.

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

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

54 clinical features of inherited neurological channelopathies.

55 adds ET to the growing list of neurological channelopathies.

56 nically relevant brain areas associated with channelopathies.

57 posttranslational modifications in acquired channelopathies.

58 ial to provide important insight into sodium channelopathies.

59 neuromuscular symptoms collectively known as channelopathies.

60 nic mechanisms, even in inherited, monogenic channelopathies.

61 physiological aspects of the skeletal muscle channelopathies.

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

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

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

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

66 Genetic neuronal channelopathies affecting peripheral axons provide a uni

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

68 Channelopathies affecting the hyperpolarization-activate

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

70 The channelopathies also show evidence of phenotypic diverge

71 rtant player in the pathogenesis of skin TRP channelopathies and a potential target for treatment of

72 ters and to convince chemists to look beyond channelopathies and anticancer activity as applications

73 medicine, such as chemotherapeutics to treat channelopathies and anticancer agents.

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

75 are due to acquired heart disease, inherited channelopathies and cardiomyopathies disproportionately

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

77 new avenues for improved therapy for muscle channelopathies and diseases of the neuromuscular juncti

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

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

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

81 dation for discovery of treatments for NALCN channelopathies and other electrical disorders.

82 ability or trafficking underlies diverse ion channelopathies and represents an unexploited unifying p

83 have been implicated in painful and painless channelopathies and there has been intense interest in t

84 sed in brain, highlighting the importance of channelopathies and transcriptional regulators.

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

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

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

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

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

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

91 tic knockout of Sorbs2 manifests coronary BK channelopathy and vasculopathy observed in diabetic mice

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

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

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

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

96 Ion channelopathies are a diverse array of human disorders c

97 Channelopathies are a diverse set of disorders associate

98 Inherited channelopathies are at the origin of many neurological d

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

100 efects in trafficking and expression, sodium channelopathies are caused by dysfunction in one or seve

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

102 Channelopathies are implicated in Fragile X syndrome (FX

103 premature activation underlie certain Na(V) channelopathies are important questions that will requir

104 Ion channelopathies are inherited diseases in which alterati

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

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

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

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

109 Human Nav channelopathies are primarily caused by variants that di

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

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

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

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

114 nnels leads to complex and poorly understood channelopathies as a result of gain- or loss-of-function

115 ooth muscle organs and have implications for channelopathies as putative aetiologies of smooth muscle

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

117 pendent Na(+) channel dysregulation in SCN4A channelopathies associated with cold- and K(+)-aggravate

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

119 Brugada syndrome (BrS) is a cardiac channelopathy associated with an elevated risk of arrhyt

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

121 approaches for developing in vitro models of channelopathy-associated disorders, the available tools

122 Channelopathy-associated enriched terms were identified

123 In total, among channelopathy-associated genes, there were 9975 variants

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

125 atform that can be adapted to search for any channelopathy-associated regulatory proteins, these resu

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

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

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

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

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

131 Multiple voltage-gated Na(+) (Nav) channelopathies can be ascribed to subtle changes in the

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

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

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

135 fertility known thus far and that this sperm channelopathy can readily be diagnosed, enabling future

136 em are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hyperch

137 e cardiovascular disease such as cardiac ion channelopathies, cardiomyopathies, thoracic aortic disea

138 Neuronal channelopathies cause brain disorders, including epileps

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

140 d KCNN3 in a group of neurological potassium channelopathies caused by an increase in K(+) conductanc

141 Non-dystrophic myotonias are skeletal muscle channelopathies caused by ion channel dysfunction.

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

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

144 s previously considered to be a paracellular channelopathy caused by mutations in the claudin-16 and

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

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

147 Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that

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

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

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

151 A second class of channelopathies, characterized by autoantibodies against

152 Our findings support the channelopathy classification of PKD2 variants associated

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

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

155 es a seizure-induced "transcriptional Ca(2+) channelopathy" consisting of Ca(V)3.2 and alpha2delta4,

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

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

158 Acquired HCN1 channelopathy derives from NRSF-mediated transcriptional

159 We propose that the novel "acquired channelopathy" described here, namely, PKA-mediated down

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

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

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

163 As with most channelopathies, episodic attacks in ATS are frequently

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

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

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

167 likely exist for other genotypically diverse channelopathies, expanding the therapeutic landscape for

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

169 hypothesis was that deleterious mutations in channelopathy genes may have a functional effect in uter

170 hypothesis was that deleterious mutations in channelopathy genes may have a functional effect in uter

171 s) without disease-causative variants in the channelopathy genes, and 973 ostensibly healthy controls

172 s) without disease-causative variants in the channelopathy genes, and 973 ostensibly healthy controls

173 current deleterious variation of FBN2, MYH6, channelopathy genes, and type 1 and 5 collagen genes.

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

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

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

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

178 growing number of gain-of-function (GOF) BK channelopathies have been identified in patients with ep

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

180 However, a cluster of severe Ca(V)2.1 channelopathies have overlapping presentations which sug

181 e cardiac conditions, including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipi

182 city is critical in the diagnosis of cardiac channelopathies; however, it remains unknown how variant

183 rs, previously identified cell type-specific channelopathies in a mouse of model of Fragile X syndrom

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

185 Calcium channelopathies in the central nervous system provide a

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

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

188 yR), cause the startle disease/hyperekplexia channelopathy in man.

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

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

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

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

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

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

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

196 illoid 4) cause diverse and largely distinct channelopathies, including inherited forms of neuromuscu

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

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

199 Animal models of monogenic channelopathies increasingly help our understanding.

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

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

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

203 Genetic testing for cardiac channelopathies is the standard of care.

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

205 Such acquired channelopathy is likely to amplify neuronal activity and

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

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

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

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

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

211 Acquired sodium channelopathy may be the mechanism underlying acute neur

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

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

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

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

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

217 included congenital heart diseases (n = 17), channelopathies (n = 14), cardiomyopathies (n = 15), non

218 JCI, McClenaghan et al. explored one of the channelopathies, namely Cantu syndrome (CS), which is a

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

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

221 Channelopathies of autoimmune origin are novel and are a

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

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

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

225 However, the channelopathy of CACNA1I in schizophrenia is unknown.

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

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

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

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

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

231 In diagnosed channelopathy or arrhythmogenic right ventricular cardio

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

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

234 Ion channelopathy plays an important role in human epilepsy

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

236 These channelopathies produce a range of disorders which inclu

237 function raise important questions about how channelopathies produce disease.

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

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

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

241 Brain channelopathies represent a growing class of brain disor

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

243 bute to Brugada Syndrome (BrS), an inherited channelopathy resulting from genetic-determined loss-of-

244 We term this channelopathy resulting from loss-of-function of SUR2-co

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

246 In several cardiac channelopathies, sex-specific predictors of outcome have

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

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

249 The neuronal channelopathies show evidence of phenotypic convergence;

250 to a seizure-induced "transcriptional Ca(2+) channelopathy."SIGNIFICANCE STATEMENT The onset of focal

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

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

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

254 Cardiac channelopathies such as catecholaminergic polymorphic ta

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

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

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

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

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

260 e study and potential treatment of potassium channelopathies such as epilepsy, Parkinson's disease an

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

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

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

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

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

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

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

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

269 Channelopathies that underlie monogenic human pain syndr

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

271 chycardia (CPVT) is a stress-induced cardiac channelopathy that has a high mortality in untreated pat

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

273 cause a unique disease syndrome called CRAC channelopathy that is characterized by immunodeficiency

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

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

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

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

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

279 In all autoimmune channelopathies, the relationship between autoantibody s

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

281 At odds with other channelopathies, the role of nonmodifiable risk factors

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

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

284 knock-in mouse model carrying human BK-D434G channelopathy to investigate the neuronal mechanism of B

285 inopathy has pleiotropic presentations, from channelopathy to syndromic forms.

286 Our findings suggest that BK channelopathy underlies epilepsy in AS and support the u

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

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

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

290 Channelopathy was the most frequent late diagnosis not m

291 The sodium channelopathies were among the first recognized ion chan

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

293 Kir6.x or SUR mutations result in KATP channelopathies, which reflect the physiological roles o

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

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

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

297 Andersen-Tawil syndrome (ATS) is an ion channelopathy with variable penetrance for the triad of

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

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

300 A Clinical Domain Channelopathy Working Group provided a final classificat