ライフサイエンスコーパス: episodic ataxia

1 ons, in 49 unrelated patients diagnosed with episodic ataxia.

2 progressive cerebellar ataxia in addition to episodic ataxia.

3 ount for the majority of identified cases of episodic ataxia.

4 tiffness, seizures, headache, dyskinesia, or episodic ataxia.

5 eizures and in a French Canadian family with episodic ataxia.

6 -ocular, manifestations within a family with episodic ataxia.

7 ncontrolled movements and recapitulating the episodic ataxia-1 (EA1) symptoms in human patients.

8 al diseases as familial hemiplegic migraine, episodic ataxia-2, and spinocerebellar ataxia 6 and also

9 also studied a series of 17 individuals with episodic ataxia accompanied by epilepsy and/or clearly e

10 on disease), the spinocerebellar ataxias and episodic ataxias, amyotrophic lateral sclerosis, benign

11 All 20 patients had a history of episodic ataxia and 19 had neuromyotonia.

12 /Q-type channel function are associated with episodic ataxia and epilepsy.

13 as in a series of 53 patients with familial episodic ataxia and hemiplegic migraine to investigate t

14 and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked t

15 Episodic ataxia and myokymia syndrome is an autosomal do

16 esia, paroxysmal non-kinesigenic dyskinesia, episodic ataxia and myotonia and we identified a novel P

17 ne or episodic ataxia, one SLC2A1 family had episodic ataxia and one PNKD family had familial hemiple

18 strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal

19 Primary episodic ataxias are autosomal dominant channelopathies

20 cs of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migrai

21 evidence of phenotypic convergence; notably, episodic ataxia can be caused by mutations of either cal

22 0-14), but was only 2 in those with isolated episodic ataxia compared with 7.7 in those with progress

23 In addition, some patients with episodic ataxia complicated by epilepsy have been shown

24 er group of dominantly inherited ataxias are episodic ataxias due to ion channel mutations.

25 Episodic ataxia (EA) is an inherited disease that leads

26 l Kv1.1 containing mutations responsible for episodic ataxia (EA), a human inherited neurological dis

27 Patients with Type 6 episodic ataxia (EA6) have mutations of the excitatory a

28 Episodic ataxia is an autosomal dominant ion channel dis

29 otentially related to the pathophysiology of episodic ataxia/myokymia, a disease associated with miss

30 We studied a mutation found in episodic ataxia of the dual-function glutamate transport

31 mily, indicates that all patients manifested episodic ataxia of varying severity.

32 ions were in familial hemiplegic migraine or episodic ataxia, one SLC2A1 family had episodic ataxia a

33 at do epilepsy, migraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperther

34 portant for neurological diseases related to episodic ataxia, such as hemiplegia, migraine, and epile

35 mus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical feature

36 rrelations, pathophysiology and treatment of episodic ataxia syndromes.

37 While clinically similar to episodic ataxias, there are currently no genes identifie

38 the brain that cause disorders ranging from episodic ataxia to epilepsy.

39 er of individuals with genetically confirmed episodic ataxia type 1 (21%) had accumulated persistent

40 Episodic ataxia type 1 (EA-1) is a neurological disorder

41 channel gene Kv1.1 are associated with human episodic ataxia type 1 (EA-1) syndrome characterized by

42 e of human Kv1 channel mutations to myokymia/episodic ataxia type 1 (EA1) and the Shaker mutant pheno

43 Episodic ataxia type 1 (EA1) is a rare autosomal dominan

44 Episodic ataxia type 1 (EA1) is an autosomal dominant ce

45 Episodic ataxia type 1 (EA1) is an autosomal dominant ne

46 ster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains

47 Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder ch

48 ed with the human autosomal dominant disease episodic ataxia type 1 (EA1).

49 sing these two parameters, the patients with episodic ataxia type 1 and controls could be clearly sep

50 spective study of both genetically confirmed episodic ataxia type 1 and episodic ataxia type 1 phenoc

51 is, since it can differentiate patients with episodic ataxia type 1 from normal controls with high se

52 A heterozygous mouse model of episodic ataxia type 1 harboring a dominant Kv1.1 mutati

53 Episodic ataxia type 1 is a neuronal channelopathy cause

54 Episodic ataxia type 1 is caused by missense mutations o

55 Episodic ataxia type 1 is considered a rare neuronal ion

56 Episodic ataxia type 1 phenocopies have not been describ

57 tically confirmed episodic ataxia type 1 and episodic ataxia type 1 phenocopies provides detailed bas

58 Episodic ataxia type 1 presents with brief episodes of c

59 ormed on patients with genetically confirmed episodic ataxia type 1 to characterize the effects of K(

60 e than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mut

61 owest (41.3) in those with mutation positive episodic ataxia type 1.

62 dentify K(v)1.1 dysfunction in patients with episodic ataxia type 1.

63 same protein cause the neurological disease episodic ataxia type 1.

64 cerebellar ataxia type 6 (SCA6) and one with episodic ataxia type 2 (EA-2).

65 Humans with the disorder episodic ataxia type 2 (EA2) and the tottering mouse mut

66 We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four-nucleotide

67 Episodic ataxia type 2 (EA2) is a dominantly inherited d

68 Episodic ataxia type 2 (EA2) is a hereditary cerebellar

69 netically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a muta

70 ns in the human CaV2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited dis

71 Q-type) voltage-gated Ca(2+) channel include episodic ataxia type 2 (EA2).

72 subunit of the P/Q calcium channel, underlie episodic ataxia type 2 (EA2).

73 t are associated with the cerebellar disease episodic ataxia type 2 (EA2).

74 channel is associated with both epilepsy and episodic ataxia type 2 in human beings.

75 Episodic ataxia type 2 is a prototypical episodic vertig

76 Episodic ataxia type 2 is caused by mutations in CACNA1A

77 e evaluated several members of a family with episodic ataxia type 2 linked to chromosome 19p by using

78 Steroid hormones may affect the episodic ataxia type 2 phenotype by modulation of voltag

79 Cav2.1 dysfunction in episodic ataxia type 2 thus has unexpected effects on ax

80 rom five families with genetically confirmed episodic ataxia type 2 underwent neurophysiological asse

81 with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A

82 Clinical observation suggests that episodic ataxia type 2, a P/Q calcium channelopathy, may

83 discovery that familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type

84 lcium channel (familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia 6, and La

85 tion, which was identified in a patient with episodic ataxia type 6 and that predicts the substitutio

86 genetic loci is slowly expanding, now up to episodic ataxia type 7.

87 ation F184C in Kv1.1 leads to development of episodic ataxia type I (EA1).

88 Episodic ataxia type-1 (EA1) is a dominant human neurolo

89 have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-in

90 Episodic ataxia type-2 (EA2) is an inherited movement di

91 Episodic ataxia type-2 (EA2) is caused by mutations in P