ライフサイエンスコーパス: erythromelalgia

1 d redness of the extremities consistent with erythromelalgia.

2 solely based on their clinical diagnosis of erythromelalgia.

3 haracterised cohort of patients with CIP and erythromelalgia.

4 mily with carbamazepine-responsive inherited erythromelalgia.

5 een linked to the painful disorder inherited erythromelalgia.

6 sodium channel mutation, S211P, which causes erythromelalgia.

7 n this kindred with CBZ-responsive inherited erythromelalgia.

8 the painful inherited neuropathy, hereditary erythromelalgia.

9 ructural small fiber studies when evaluating erythromelalgia.

10 of early satiety, night sweats, pruritus, or erythromelalgia.

11 al proliferation, which is usually seen with erythromelalgia.

12 tal insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (

13 ly well-studied cases including 6 CIP and 13 erythromelalgia (9 with family history, 10 with small-fi

14 Gain-of-function mutations cause erythromelalgia and paroxysmal extreme pain disorder as

15 dentified in the painful disorders inherited erythromelalgia and small-fiber neuropathy (SFN).

16 gested between the age of onset of inherited erythromelalgia and the extent of hyperpolarizing shifts

17 romes (hepatotoxic, accelerated nephrotoxic, erythromelalgia); and three delayed syndromes (delayed n

18 CIP and erythromelalgia are defined as genetically heterogeneous

19 n, previous reports of OS have not described erythromelalgia as a clinical feature.

20 Hereditary erythromelalgia can be difficult to treat and, although

21 In erythromelalgia case 7, we identified a novel Q10>K muta

22 a severe inherited pain syndrome (inherited erythromelalgia) causes a substantial hyperpolarizing sh

23 eptor hyperexcitability underlying inherited erythromelalgia, characterized in most kindreds by early

24 (Tricholoma equestre, Russula subnigricans), erythromelalgia (Clitocybe amoenolens, Clitocybe acromel

25 ervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a los

26 ivotal role of activation shift in inherited erythromelalgia development, slow inactivation may regul

27 Inherited erythromelalgia/erythermalgia (IEM) is a neuropathy char

28 in NaV1.7 sodium channel from a kindred with erythromelalgia hyperpolarizes activation.

29 e linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disord

30 sing and have been associated with inherited erythromelalgia (IEM) and paroxysmal extreme pain disord

31 d with two genetic pain disorders, inherited erythromelalgia (IEM) and paroxysmal extreme pain disord

32 l extreme pain disorder (PEPD) and inherited erythromelalgia (IEM) are inherited pain syndromes arisi

33 Inherited erythromelalgia (IEM) causes debilitating episodic neuro

34 Inherited erythromelalgia (IEM) has been linked to gain-of-functio

35 The inherited pain disorder erythromelalgia (IEM) has been linked to Nav1.7 gain-of-

36 or chronic pain, including pain in inherited erythromelalgia (IEM) in which gain-of-function mutation

37 several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-funct

38 Inherited erythromelalgia (IEM), a severe pain syndrome characteri

39 Inherited erythromelalgia (IEM), an autosomal dominant disorder ch

40 ns that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in

41 Inherited erythromelalgia (IEM, also known as erythermalgia), an a

42 testing became a routine part of evaluating erythromelalgia in 2010.

43 testing became a routine part of evaluating erythromelalgia in 2010.

44 e describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v

45 n, Q10R, in a patient with clinical onset of erythromelalgia in the second decade.

46 t studies, however, have shown that familial erythromelalgia is a channelopathy caused by mutations i

47 Importance: Erythromelalgia is a clinical diagnosis based on intermi

48 Erythromelalgia is a clinical diagnosis based on intermi

49 Erythromelalgia is an autosomal dominant disorder charac

50 Objectives: To examine whether erythromelalgia is associated with a structural loss of

51 To examine whether erythromelalgia is associated with a structural loss of

52 erve fibers that cause acral pain syndromes, erythromelalgia is not characterized by loss of ENFD.

53 erve fibers that cause acral pain syndromes, erythromelalgia is not characterized by loss of ENFD.

54 Erythromelalgia is the first human disorder in which it

55 Erythromelalgia is the first inherited pain disorder in

56 rs, involve altered sodium channel function, erythromelalgia may emerge as a model disease that holds

57 but, if associated with OS, the features of erythromelalgia may expand the phenotypic spectrum of th

58 In contrast, a different hereditary erythromelalgia mutation (F216S), not located in the loc

59 ity with those produced by another inherited erythromelalgia mutation (L858F) that does not enhance s

60 differences in Nav1.7 caused by a hereditary erythromelalgia mutation (N395K) that lies within the lo

61 ctivation and inactivation of this inherited erythromelalgia mutation in Na(v)1.7 but does not affect

62 the change produced by I848T, an early-onset erythromelalgia mutation.

63 erminant of the hyperexcitability induced by erythromelalgia mutations in sensory neurons, but that c

64 , a smaller shift than seen with early-onset erythromelalgia mutations, but similar to that of I136V,

65 The inherited erythromelalgia Na(v)1.7/F1449V mutation, within the C t

66 ce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and s

67 characterization of a well-defined inherited erythromelalgia population indicates the importance of c

68 ty of pain both between and within inherited erythromelalgia subjects, even those within a family who

69 nt (P610>T) previously considered causal for erythromelalgia, supporting recently raised doubt on its

70 Inherited erythromelalgia, the first human pain syndrome linked to

71 the response of individuals with hereditary erythromelalgia to lidocaine treatment may be determined

72 Because inherited erythromelalgia was linked to gain-of-function changes o

73 Familial erythromelalgia (Weir Mitchell's disease), also known as

74 s produce pain syndromes including inherited erythromelalgia, which is usually resistant to pharmacot

75 been linked to early age of onset inherited erythromelalgia, while mutations causing small activatio

76 ective study of 52 consecutive patients with erythromelalgia who were seen between September 1, 2010,

77 ective study of 52 consecutive patients with erythromelalgia who were seen between September 1, 2010,

78 Here, we report a family with inherited erythromelalgia with an in-frame deletion of a single re

79 esting of 13 subjects with primary inherited erythromelalgia with mutations of SCN9A, the gene encodi

80 The hypothesis that patients with erythromelalgia would have decreased ENFD was formulated

81 Measures: The hypothesis that patients with erythromelalgia would have decreased ENFD was formulated