ライフサイエンスコーパス: generalized epilepsy

1 morphism A867D is associated with idiopathic generalized epilepsy.

2 mmon susceptibility variants associated with generalized epilepsy.

3 ither channel can cause a form of idiopathic generalized epilepsy.

4 muscular dystrophy, brain abnormalities and generalized epilepsy.

5 GMA) is a well-defined subtype of idiopathic generalized epilepsy.

6 association with various forms of idiopathic generalized epilepsy.

7 tin (SST)(+) interneurons, results in severe generalized epilepsy.

8 ion and how this contributes to the onset of generalized epilepsy.

9 spike-and-wave episodes in a rodent model of generalized epilepsy.

10 ay give rise to hyperexcitability underlying generalized epilepsy.

11 al retardation, and most recently idiopathic generalized epilepsy.

12 m of human AE3 is associated with idiopathic generalized epilepsy.

13 mily having both FHM and a high incidence of generalized epilepsy.

14 tical network lie at the heart of idiopathic generalized epilepsy.

15 m of human AE3 is associated with idiopathic generalized epilepsy.

16 substrate for seizures in some patients with generalized epilepsy.

17 N1A is not a major contributor to idiopathic generalized epilepsy.

18 convulsions, a dominantly inherited form of generalized epilepsy.

19 sy (typical and atypical), and myoclonic and generalized epilepsies.

20 Idiopathic generalized epilepsies account for about 40% of epilepsy

21 epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood e

22 t of 35 adults with heterogeneous idiopathic generalized epilepsies and 40 healthy adult controls.

23 8.3 (95% confidence interval 2.93-15.31) for generalized epilepsy and 2.5 (95% confidence interval 0.

24 1.0 (95% confidence interval 0.00-2.19) for generalized epilepsy and 2.6 (95% confidence interval 1.

25 We studied a patient with idiopathic generalized epilepsy and frequent absences, using electr

26 Frings mice are a model of generalized epilepsy and have seizures in response to lo

27 ffective drug in the treatment of idiopathic generalized epilepsy and juvenile myoclonic epilepsy.

28 on (D434G) associated with human syndrome of generalized epilepsy and paroxysmal dyskinesia (GEPD), w

29 e results identify a gene that is mutated in generalized epilepsy and paroxysmal dyskinesia and have

30 arization of action potentials, resulting in generalized epilepsy and paroxysmal dyskinesia by allowi

31 sociated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromo

32 to human neurological diseases of coexistent generalized epilepsy and paroxysmal dyskinesia.

33 was identified both in a German family with generalized epilepsy and praxis-induced seizures and in

34 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data s

35 ave historically been thought of as 'primary generalized' epilepsies, appear to originate in local mi

36 zures, which characterize various idiopathic generalized epilepsies, are not fully understood, but im

37 n the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the

38 r genes have been associated with idiopathic generalized epilepsies, but the cellular consequences of

39 onic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, general

40 lonic epilepsy is the most common idiopathic generalized epilepsy, characterized by frequent myocloni

41 ncrease in the risk of having a diagnosis of generalized epilepsy, compared with individuals without

42 Patients with generalized epilepsy exhibit cerebral cortical disinhibi

43 generalized epilepsies) with the idiopathic generalized epilepsies group showing a more disrupted pa

44 es only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype'.

45 avons syndrome), 14 patients with idiopathic generalized epilepsies (IGE) without ECS, and 16 healthy

46 MRI scans of patients with idiopathic generalized epilepsy (IGE) are normal on visual assessme

47 Idiopathic generalized epilepsy (IGE) is a class of genetically det

48 Idiopathic generalized epilepsy (IGE) is a common, complex disease

49 Idiopathic generalized epilepsy (IGE) is a complex disease with hig

50 e cerebral haemodynamic status of idiopathic generalized epilepsy (IGE) is a very complicated process

51 ural hyperexcitability underlying idiopathic generalized epilepsy (IGE) is not known.

52 ed families with adolescent-onset idiopathic generalized epilepsy (IGE), for linkage to markers spann

53 In patients with idiopathic generalized epilepsy (IGE), visual inspection of routine

54 ilepsy (LRE, n = 59) or idiopathic (primary) generalized epilepsy (IGE, n = 35) receiving either a cy

55 Idiopathic generalized epilepsies (IGEs) account for approximately

56 Most human idiopathic generalized epilepsies (IGEs) are polygenic, but virtual

57 e worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs).

58 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs).

59 absence epilepsy (CAE) and other idiopathic generalized epilepsies (IGEs).

60 a considerably increased risk of idiopathic generalized epilepsy, intellectual disability, and schiz

61 Overlap with idiopathic generalized epilepsies is limited and of uncertain genet

62 ar to that widely accepted in the idiopathic generalized epilepsies, is the usual mode of inheritance

63 al convulsions (BFNC), a class of idiopathic generalized epilepsy, is an autosomal dominantly inherit

64 temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selectiv

65 n-related epilepsies (n = 24) and idiopathic generalized epilepsies (n = 20) compared to healthy cont

66 vulsions (BFNC) is a rare autosomal dominant generalized epilepsy of the newborn infant.

67 ble for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592).

68 ronized firing behavior and produce a stable generalized epilepsy phenotype.

69 eutic benefit for controlling other types of generalized epilepsies should be evaluated.

70 ent in relatives of probands with idiopathic generalized epilepsies (standardized incidence ratio 6.0

71 In relatives of probands with generalized epilepsy, standardized incidence ratios were

72 myoclonic epilepsy is a heritable idiopathic generalized epilepsy syndrome, characterized by myocloni

73 the molecular etiology of a human idiopathic generalized epilepsy syndrome.

74 candidate gene for this inherited idiopathic generalized epilepsy syndrome.

75 nic epilepsy is the most frequent idiopathic generalized epilepsy syndrome.

76 stages were noted with focal more than with generalized epilepsy syndromes (P < 0.01).

77 n channels, GABAA receptors (GABAARs), cause generalized epilepsy syndromes in humans.

78 tic predisposition is common for many of the generalized epilepsy syndromes, and mutations in genes e

79 ls or networks involved in the physiology of generalized epilepsy syndromes.

80 s benzodiazepine modulation in families with generalized epilepsy syndromes.

81 Here we demonstrate using a rat model of generalized epilepsy that diffuse optical tomography (DO

82 In addition, the mice exhibit primary, generalized epilepsy that is accompanied by remarkably l

83 myoclonic epilepsy (JME) is a common form of generalized epilepsy that starts in adolescence.

84 ctivity have been associated with idiopathic generalized epilepsies, whereas mutations that disrupt i

85 ed with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (GEFS+ t

86 Generalized epilepsy with febrile seizures plus (GEFS+)

87 ant idiopathic epilepsy disorders, including generalized epilepsy with febrile seizures plus (GEFS+)

88 ed with genetic epilepsy syndromes including generalized epilepsy with febrile seizures plus (GEFS+)

89 QT syndrome type 3 or Brugada syndrome) and generalized epilepsy with febrile seizures plus (GEFS+)

90 ociated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+)

91 Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+)

92 N1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+)

93 with a growing number of disorders including generalized epilepsy with febrile seizures plus (GEFS+),

94 epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+),

95 ma2 subunit mutation, Q351X, associated with generalized epilepsy with febrile seizures plus (GEFS+),

96 GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+).

97 all Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+).

98 were proposed as susceptibility alleles for generalized epilepsy with febrile seizures plus and juve

99 ociated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and seve

100 ) in an inheritable form of epilepsy (GEFS+, generalized epilepsy with febrile seizures plus) in huma

101 In generalized epilepsy with febrile seizures plus, an auto

102 romes, including childhood absence epilepsy, generalized epilepsy with febrile seizures plus, and Dra

103 al. as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are als

104 ssociated with the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus, which i

105 dium channel Na(V)1.1 are a primary cause of generalized epilepsy with febrile seizures plus.

106 unction observed for alleles associated with generalized epilepsy with febrile seizures plus.

107 receptor, the GABA(A) receptor, is linked to generalized epilepsy with febrile seizures.

108 Genetic generalized epilepsy with photosensitivity demonstrated

109 ng patient groups were included: (i) genetic generalized epilepsy with photosensitivity, 16 subjects

110 calization-related epilepsies and idiopathic generalized epilepsies) with the idiopathic generalized

111 cts (mean age 25 +/- 10 years); (ii) genetic generalized epilepsy without photosensitivity, 13 patien