ライフサイエンスコーパス: periodic paralysis

1 blished as a pathomechanism for hypokalaemic periodic paralysis.

2 hies, including non-dystrophic myotonias and periodic paralysis.

3 .1) is the most common cause of hypokalaemic periodic paralysis.

4 es has an uncertain relation to hypokalaemic periodic paralysis.

5 uring challenge with agents known to provoke periodic paralysis.

6 ion defects causing myotonia or hyperkalemic periodic paralysis.

7 fer susceptibility to thyrotoxic hypokalemic periodic paralysis.

8 of fibre excitability underlying myotonia or periodic paralysis.

9 pathophysiological mechanism in hypokalemic periodic paralysis.

10 are a well-established cause of myotonia and periodic paralysis.

11 orms of epilepsy, arrhythmias, myotonia, and periodic paralysis.

12 cts that cause susceptibility to myotonia or periodic paralysis.

13 t cause gating pore current and hypokalaemic periodic paralysis.

14 logy that are characteristic of hypokalaemic periodic paralysis.

15 nistic link between acidosis and episodes of periodic paralysis.

16 force-stimulus relation, without evidence of periodic paralysis.

17 er fibres transiently inexcitable to produce periodic paralysis.

18 ve been identified as a cause of myotonia or periodic paralysis.

19 xcitability of the fiber and cause a form of periodic paralysis.

20 hythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segrega

21 citable cells, and heritable mutations cause periodic paralysis and cardiac arrhythmia.

22 gene for MiRP2 (KCNE3) in two families with periodic paralysis and found to segregate with the disea

23 n two distinct families that had symptoms of periodic paralysis and malignant hyperthermia susceptibi

24 nnel gene SCN4A are associated with cases of periodic paralysis and myotonia, including the human col

25 ; p.I582V) to that found in the patient with periodic paralysis and myotonia.

26 The number of pathogenic mutations causing periodic paralysis and nondystrophic myotonias continues

27 and electro-diagnostic testing strategies of periodic paralysis and nondystrophic myotonias.

28 ting attacks in mouse models of hypokalaemic periodic paralysis and now needs to be tested in patient

29 1-R528H knock-in mouse model of hypokalaemic periodic paralysis and show herein that bumetanide prote

30 explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acet

31 l syndrome (ATS-1), an inherited disorder of periodic paralysis and ventricular arrhythmias.

32 ransient attacks of weakness in hypokalaemic periodic paralysis are caused by reduced fibre excitabil

33 xia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel g

34 nide as a potential therapy for hypokalaemic periodic paralysis arising from either NaV1.4 or CaV1.1

35 aV1.1) have been associated with hypokalemic periodic paralysis, but how the pathogenesis of this dis

36 metanide can prevent attacks of hypokalaemic periodic paralysis, but this has not yet been tested in

37 on channels impair cell function, leading to periodic paralysis, cardiac arrhythmia, renal failure, e

38 Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic

39 ients with genetically confirmed hypokalemic periodic paralysis (Cav1.1-R1239H mutation, n = 5; Cav1.

40 as been used as a treatment for hypokalaemic periodic paralysis for over 40 years but its precise the

41 In a mouse model of hypokalaemic periodic paralysis from a sodium channel mutation (NaV1.

42 osis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome.

43 lies actually have a variant of hyperkalemic periodic paralysis (hyperKPP) due to a mutation of the m

44 Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant s

45 Hyperkalemic periodic paralysis (HyperKPP) produces myotonia and atta

46 Hyperkalemic periodic paralysis (HyperPP) is a disorder in which curr

47 variety of diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita, an

48 those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment

49 Hypokalemic periodic paralysis (hypoKPP) is characterized by episodi

50 , one involving 42 subjects with hypokalemic periodic paralysis (HypoPP) and the other involving 31 s

51 olarization-induced weakness in hypokalaemic periodic paralysis (HypoPP) arising from mutations in ei

52 Hypokalemic periodic paralysis (HypoPP) is a familial skeletal muscl

53 Hypokalemic periodic paralysis (HypoPP) is an ion channelopathy of s

54 Hypokalaemic periodic paralysis (hypoPP) is the archetypal skeletal m

55 of the known mutations causing hypokalaemic periodic paralysis (HypoPP) result in loss of positively

56 Mutations in this channel cause hypokalemic periodic paralysis (HypoPP), a human autosomal dominant

57 der of sarcolemmal excitability, hypokalemic periodic paralysis (HypoPP), which is usually caused by

58 n in proximal tubule cells) and hypokalaemic periodic paralysis (hypoPP; usually associated with leak

59 ons in channel subunits, such as hypokalemic periodic paralysis in humans and the weaver mouse, and w

60 sense mutation in MiRP2 that segregated with periodic paralysis in two families and diminished the ef

61 ues in an S4 segment that cause hypokalaemic periodic paralysis induce a hyperpolarization-activated

62 novel mutation in a family with hypokalemic periodic paralysis is described.

63 study indicated that thyrotoxic hypokalaemic periodic paralysis is determined by mutations in a novel

64 Hypokalaemic periodic paralysis is typically associated with mutation

65 A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 segment of the

66 a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhy

67 ecific isoforms cause human diseases such as periodic paralysis, long QT syndrome, and epilepsy.

68 igraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperthermia, and generali

69 ontrast, the T704M mutation, a hyperkalaemic periodic paralysis mutation located in the cytoplasmic i

70 disrupted S4 translocation for hypokalaemic periodic paralysis mutations at arginine residues locate

71 wing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects

72 In the case of hypokalemic periodic paralysis, mutations of one of the outermost tw

73 e been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy.

74 es of skeletal and cardiac muscle, including periodic paralysis, myotonia and the long QT syndrome, p

75 produce a range of disorders which include: periodic paralysis, myotonias, malignant hyperthermia, a

76 nt symptomatic attacks including myasthenia, periodic paralysis, myotonic stiffness, seizures, headac

77 The number of pathogenic mutations causing periodic paralysis, nondystrophic myotonias, and ryanodi

78 Normokalemic periodic paralysis (normoKPP) is well established in the

79 Potassium-sensitive normokalemic periodic paralysis (NormoPP) is caused by mutations in t

80 cle, which present clinically with myotonia, periodic paralysis, or a combination of both.

81 s with either myotonia (muscle stiffness) or periodic paralysis, or both.

82 h as paramyotonia congenita and hyperkalemic periodic paralysis, our study exemplifies how variations

83 Hyperkalaemic periodic paralysis, paramyotonia congenita, and potassiu

84 sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the pota

85 ine receptor gene manifesting as an atypical periodic paralysis phenotype.

86 SCN4A gene, in a family with a hyperkalaemic periodic paralysis phenotype.

87 volving 31 subjects with potassium-sensitive periodic paralysis (PSPP).

88 hree missense mutations causing hypokalaemic periodic paralysis (R528H in domain II S4 of the alpha1S

89 otoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP), is largely unknown.

90 cium channel of skeletal muscle (hypokalemic periodic paralysis), the neuronal P/Q-type voltage-gated

91 -> H) to yield R83H-MiRP2 is associated with periodic paralysis; the analogs K69H-MinK and K75H-MiRP1

92 ial hypoKPP, consisting mainly of thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis

93 Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attac

94 1.1-R2 (R900S, R1239H) linked to hypokalemic periodic paralysis type 1 and of CaV1.3-R3 (R990H) ident

95 ients with genetically confirmed hypokalemic periodic paralysis underwent calf muscle imaging.

96 In patients with hypokalemic periodic paralysis versus healthy volunteers, Cl(-) and

97 In mutation carriers, the frequency of periodic paralysis was 64% and dysmorphic features 78%.