ライフサイエンスコーパス: hyperekplexia

1 neurological disorders, including autism and hyperekplexia.

2 with ISOD who developed infantile spasms and hyperekplexia.

3 ange on electroencephalogram consistent with hyperekplexia.

4 yT2) are well-established genes of effect in hyperekplexia.

5 ve and clinically well stratified linkage to hyperekplexia.

6 ers a paediatric and adult startle disorder, hyperekplexia.

7 on, often present in the cases of hereditary hyperekplexia.

8 ic glycine transporter 2 (GlyT2), also cause hyperekplexia.

9 V280M, and R414H) to identify how they cause hyperekplexia.

10 pastic), but have not been detected in human hyperekplexia.

11 confirm that GLRB mutations can cause human hyperekplexia.

12 (K276E), associated with an atypical form of hyperekplexia.

13 have revealed the basic deficit in familial hyperekplexia.

14 ereditary molybdenum cofactor deficiency and hyperekplexia (a failure of inhibitory neurotransmission

15 Because GlyR mutations in humans lead to hyperekplexia, a motor disorder characterized by startle

16 n mutations in human glycine receptors cause hyperekplexia, a rare inherited disease associated with

17 gain-of-function GLRA1 mutations also cause hyperekplexia, although the mechanism is unknown.

18 in a patient with clinical symptoms of both hyperekplexia and epilepsy.

19 signment of GLRB as the third major gene for hyperekplexia and impacts on the genetic stratification

20 idate gene and auto-antibody target in human hyperekplexia and stiff person syndrome, respectively.

21 cterized by rigidity, painful muscle spasms, hyperekplexia, and brainstem signs.

22 The developmental delay in hyperekplexia, and speech acquisition in particular, may

23 s in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myastheni

24 ristic 'stiffness, startles and stumbles' of hyperekplexia, apnoea attacks (50 of 89) and delayed dev

25 rter GlyT2 are a second major cause of human hyperekplexia, as well as congenital muscular dystonia t

26 Most hyperekplexia cases are caused by mutations in the alpha

27 re associated with the neurological disorder hyperekplexia characterized by a generalized startle rea

28 even individuals had a clinical diagnosis of hyperekplexia confirmed by genetic testing: 61 cases had

29 plete the chloride electrochemical gradient, hyperekplexia could potentially result from reduced glyc

30 a potential therapeutic target for dominant hyperekplexia disease and other diseases with GlyR defic

31 hat are responsible for a hereditary startle-hyperekplexia disease.

32 er, many individuals diagnosed with sporadic hyperekplexia do not carry mutations in these genes.

33 sition 46 in the GlyR alpha1 subunit induced hyperekplexia following a reduction in the potency of th

34 he nonepileptic paroxysmal movement disorder hyperekplexia has not previously been reported with ISOD

35 ding GlyT2 are the main presynaptic cause of hyperekplexia in humans and produce congenital muscular

36 ding GlyT2 are the main presynaptic cause of hyperekplexia in humans.

37 es on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor

38 Hyperekplexia is a human neurological disorder character

39 Hyperekplexia is a rare human neuromotor disorder caused

40 Congenital hyperekplexia is a rare, potentially treatable neuromoto

41 Hyperekplexia is a syndrome of readily provoked startle

42 Hyperekplexia is caused by defective inhibitory glyciner

43 Hyperekplexia is characterised by neonatal hypertonia an

44 We confirm that hyperekplexia is predominantly a recessive condition but

45 Hyperekplexia is predominantly caused by mutations in th

46 Hyperekplexia (MIM: 149400) is a neurological disorder c

47 nstem are more vulnerable than heteromers to hyperekplexia mutation-induced impairment.

48 We recently showed that two new hyperekplexia mutations, Q226E and V280M, induced sponta

49 of which is observed in patients with GLRA1 hyperekplexia mutations.

50 lie several neuromuscular disorders, such as hyperekplexia, myoclonus, dystonia, and epilepsy.

51 tic evidence for 'major' or 'minor' forms of hyperekplexia on a population basis.

52 ients suffering from the neuromotor disorder hyperekplexia or in spontaneous mouse models resulted in

53 Hyperekplexia or startle disease is a rare clinical synd

54 Hyperekplexia or startle disease is a serious neurologic

55 Hereditary hyperekplexia or startle disease is characterized by an

56 Hyperekplexia or startle disease is characterized by an

57 herited defects in glycine receptors lead to hyperekplexia, or startle disease.

58 quencing of SLC6A5 in 93 new unrelated human hyperekplexia patients revealed 20 sequence variants in

59 GLRB through 117 GLRA1- and SLC6A5-negative hyperekplexia patients using a multiplex-polymerase chai

60 glycine receptor mutants identified in human hyperekplexia patients using expression in transfected c

61 ta-subunit of hGlyR (GLRB) in a cohort of 22 hyperekplexia patients, we provide evidence to confirm t

62 uld also lead to pain sensitization and to a hyperekplexia phenotype that correlates with mutation se

63 propose it is primarily responsible for the hyperekplexia phenotype.

64 in a compound heterozygote with a transient hyperekplexia phenotype.

65 Here we analyzed 68 new unrelated hyperekplexia probands for GLRA1 mutations and identifie

66 e and dominant GLRB variants in 12 unrelated hyperekplexia probands.

67 ly ascertained reports of ethnicity from our hyperekplexia research cohort.

68 it of GlyR (glrb) occur in a murine model of hyperekplexia (spastic), but have not been detected in h

69 ects in human glycine receptors give rise to hyperekplexia (startle disease).

70 receptors (GlyRs) have been linked to human hyperekplexia/startle disease and autism spectrum disord

71 In addition to classical hyperekplexia symptoms, some individuals had abnormal re

72 ies the debilitating neurological condition, hyperekplexia, which is characterised by exaggerated sta

73 se were compared with all published cases of hyperekplexia with an identified genetic cause.