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1 pokalemic periodic paralysis or hyperkalemic periodic paralysis).
2 e pathological consequences in patients with periodic paralysis.
3 blished as a pathomechanism for hypokalaemic periodic paralysis.
4 hies, including non-dystrophic myotonias and periodic paralysis.
5 .1) is the most common cause of hypokalaemic periodic paralysis.
6 uring challenge with agents known to provoke periodic paralysis.
7 ion defects causing myotonia or hyperkalemic periodic paralysis.
8 fer susceptibility to thyrotoxic hypokalemic periodic paralysis.
9 of fibre excitability underlying myotonia or periodic paralysis.
10 es has an uncertain relation to hypokalaemic periodic paralysis.
11  pathophysiological mechanism in hypokalemic periodic paralysis.
12 orms of epilepsy, arrhythmias, myotonia, and 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 are a well-established cause of myotonia and periodic paralysis.
17 er fibres transiently inexcitable to produce periodic paralysis.
18 cts that cause susceptibility to myotonia or periodic paralysis.
19 ve been identified as a cause of myotonia or periodic paralysis.
20 force-stimulus relation, without evidence of periodic paralysis.
21 xcitability of the fiber and cause a form of periodic paralysis.
22 hythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segrega
23 citable cells, and heritable mutations cause periodic paralysis and cardiac arrhythmia.
24  gene for MiRP2 (KCNE3) in two families with periodic paralysis and found to segregate with the disea
25 n two distinct families that had symptoms of periodic paralysis and malignant hyperthermia susceptibi
26 nnel gene SCN4A are associated with cases of periodic paralysis and myotonia, including the human col
27 ; p.I582V) to that found in the patient with periodic paralysis and myotonia.
28   The number of pathogenic mutations causing periodic paralysis and nondystrophic myotonias continues
29 and electro-diagnostic testing strategies of periodic paralysis and nondystrophic myotonias.
30 ting attacks in mouse models of hypokalaemic periodic paralysis and now needs to be tested in patient
31 1-R528H knock-in mouse model of hypokalaemic periodic paralysis and show herein that bumetanide prote
32 explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acet
33 l syndrome (ATS-1), an inherited disorder of periodic paralysis and ventricular arrhythmias.
34            Recurrent episodes of weakness in periodic paralysis are caused by intermittent loss of mu
35 ransient attacks of weakness in hypokalaemic periodic paralysis are caused by reduced fibre excitabil
36 xia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel g
37 nide as a potential therapy for hypokalaemic periodic paralysis arising from either NaV1.4 or CaV1.1
38 hy with variable penetrance for the triad of periodic paralysis, arrhythmia, and dysmorphia.
39 aV1.1) have been associated with hypokalemic periodic paralysis, but how the pathogenesis of this dis
40 metanide can prevent attacks of hypokalaemic periodic paralysis, but this has not yet been tested in
41 on channels impair cell function, leading to periodic paralysis, cardiac arrhythmia, renal failure, e
42      Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic
43 ients with genetically confirmed hypokalemic periodic paralysis (Cav1.1-R1239H mutation, n = 5; Cav1.
44 as been used as a treatment for hypokalaemic periodic paralysis for over 40 years but its precise the
45             In a mouse model of hypokalaemic periodic paralysis from a sodium channel mutation (NaV1.
46 osis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome.
47 lies actually have a variant of hyperkalemic periodic paralysis (hyperKPP) due to a mutation of the m
48                                 Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant s
49                                 Hyperkalemic periodic paralysis (HyperKPP) produces myotonia and atta
50                                 Hyperkalemic periodic paralysis (HyperPP) is a disorder in which curr
51  variety of diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita, an
52 d in patients with myotonia or hyperkalaemic periodic paralysis (HyperPP).
53 for attacks of weakness in other variants of periodic paralysis (hypokalemic periodic paralysis or hy
54  those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment
55                                  Hypokalemic periodic paralysis (hypoKPP) is characterized by episodi
56 , one involving 42 subjects with hypokalemic periodic paralysis (HypoPP) and the other involving 31 s
57 olarization-induced weakness in hypokalaemic periodic paralysis (HypoPP) arising from mutations in ei
58                                  Hypokalemic periodic paralysis (HypoPP) is a familial skeletal muscl
59                                  Hypokalemic periodic paralysis (HypoPP) is an ion channelopathy of s
60                                 Hypokalaemic periodic paralysis (hypoPP) is the archetypal skeletal m
61  of the known mutations causing hypokalaemic periodic paralysis (HypoPP) result in loss of positively
62  Mutations in this channel cause hypokalemic periodic paralysis (HypoPP), a human autosomal dominant
63 leak current through the VSD and hypokalemic periodic paralysis (HypoPP), but these have hitherto not
64 der of sarcolemmal excitability, hypokalemic periodic paralysis (HypoPP), which is usually caused by
65 nduced by a low-K+ challenge in hypokalaemic periodic paralysis (HypoPP).
66 n in proximal tubule cells) and hypokalaemic periodic paralysis (hypoPP; usually associated with leak
67 ons in channel subunits, such as hypokalemic periodic paralysis in humans and the weaver mouse, and w
68 sense mutation in MiRP2 that segregated with periodic paralysis in two families and diminished the ef
69 ues in an S4 segment that cause hypokalaemic periodic paralysis induce a hyperpolarization-activated
70 ibutes to failure of ECC in diseases such as periodic paralysis, intensive care unit acquired weaknes
71  novel mutation in a family with hypokalemic periodic paralysis is described.
72 study indicated that thyrotoxic hypokalaemic periodic paralysis is determined by mutations in a novel
73                                 Hypokalaemic periodic paralysis is typically associated with mutation
74 A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 segment of the
75  a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhy
76 ecific isoforms cause human diseases such as periodic paralysis, long QT syndrome, and epilepsy.
77 igraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperthermia, and generali
78 ontrast, the T704M mutation, a hyperkalaemic periodic paralysis mutation located in the cytoplasmic i
79  disrupted S4 translocation for hypokalaemic periodic paralysis mutations at arginine residues locate
80 wing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects
81                   In the case of hypokalemic periodic paralysis, mutations of one of the outermost tw
82 e been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy.
83 es of skeletal and cardiac muscle, including periodic paralysis, myotonia and the long QT syndrome, p
84  human genetic diseases, such as hypokalemic periodic paralysis, myotonia, and long-QT and Brugada sy
85  produce a range of disorders which include: periodic paralysis, myotonias, malignant hyperthermia, a
86 nt symptomatic attacks including myasthenia, periodic paralysis, myotonic stiffness, seizures, headac
87   The number of pathogenic mutations causing periodic paralysis, nondystrophic myotonias, and ryanodi
88                                 Normokalemic periodic paralysis (normoKPP) is well established in the
89             Potassium-sensitive normokalemic periodic paralysis (NormoPP) is caused by mutations in t
90  variants of periodic paralysis (hypokalemic periodic paralysis or hyperkalemic periodic paralysis).
91 ered by environmental stresses: exercise for periodic paralysis or stress with adrenergic stimulation
92 cle, which present clinically with myotonia, periodic paralysis, or a combination of both.
93 s with either myotonia (muscle stiffness) or periodic paralysis, or both.
94 h as paramyotonia congenita and hyperkalemic periodic paralysis, our study exemplifies how variations
95                                Hyperkalaemic periodic paralysis, paramyotonia congenita, and potassiu
96 sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the pota
97 ine receptor gene manifesting as an atypical periodic paralysis phenotype.
98 SCN4A gene, in a family with a hyperkalaemic periodic paralysis phenotype.
99 volving 31 subjects with potassium-sensitive periodic paralysis (PSPP).
100 hree missense mutations causing hypokalaemic periodic paralysis (R528H in domain II S4 of the alpha1S
101 otoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP), is largely unknown.
102 cium channel of skeletal muscle (hypokalemic periodic paralysis), the neuronal P/Q-type voltage-gated
103 -> H) to yield R83H-MiRP2 is associated with periodic paralysis; the analogs K69H-MinK and K75H-MiRP1
104 ial hypoKPP, consisting mainly of thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis
105                       Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attac
106 1.1-R2 (R900S, R1239H) linked to hypokalemic periodic paralysis type 1 and of CaV1.3-R3 (R990H) ident
107 ients with genetically confirmed hypokalemic periodic paralysis underwent calf muscle imaging.
108                 In patients with hypokalemic periodic paralysis versus healthy volunteers, Cl(-) and
109       In mutation carriers, the frequency of periodic paralysis was 64% and dysmorphic features 78%.

 
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