ライフサイエンスコーパス: absence epilepsy

1 nnel and identify the first gene involved in absence epilepsy.

2 ical delta oscillations and the emergence of absence epilepsy.

3 .2, contributes to disease states, including absence epilepsy.

4 ocortical circuits leading to non-convulsive absence epilepsy.

5 o the abnormal spike-wave discharges seen in absence epilepsy.

6 spike-and-wave discharges characteristic of absence epilepsy.

7 and generate pathological activities during absence epilepsy.

8 BS/Orl mice, which is a new genetic model of absence epilepsy.

9 quirky mice display ataxia, dyskinesia, and absence epilepsy.

10 ces in corticothalamic circuitry can lead to absence epilepsy.

11 on, G32R, has been associated with childhood absence epilepsy.

12 e in children with newly diagnosed childhood absence epilepsy.

13 an lamotrigine in the treatment of childhood absence epilepsy.

14 ial therapeutic targets for the treatment of absence epilepsy.

15 s were discovered in patients with childhood absence epilepsy.

16 seizures, which resemble the human disorder absence epilepsy.

17 ebellar ataxia, abnormal motor behavior, and absence epilepsy.

18 contribute to abnormal brain states such as absence epilepsy.

19 ol rats and WAG/Rij rats, a genetic model of absence epilepsy.

20 two freely behaving genetic rodent models of absence epilepsy.

21 te to thalamocortical dysrhythmia, including absence epilepsy.

22 dles and spike-wave discharge of generalized absence epilepsy.

23 into spike-wave discharges characteristic of absence epilepsy.

24 tractive alternative for studying idiopathic absence epilepsy.

25 aker neurons that favor rebound bursting and absence epilepsy.

26 nce the abnormal rhythmicity associated with absence epilepsy.

27 rmal sleep to hypersynchrony associated with absence epilepsy.

28 een shown to be a faithful model of acquired absence epilepsy, a devastating condition for which few

29 n attractive candidate gene for common human absence epilepsy, a genetically complex disorder.

30 um channel gene mutations initiate a complex absence epilepsy and ataxia phenotype, and in mice, seco

31 complex neurological disorder that includes absence epilepsy and ataxia.

32 Stargazin mutation results in absence epilepsy and cerebellar ataxia in stargazer (stg

33 Tottering, a mouse model for absence epilepsy and cerebellar ataxia, carries a mutati

34 3.2 channel overactivity and consequently to absence epilepsy and establish the I-II loop as an impor

35 ified in an Australian family with childhood absence epilepsy and febrile seizures.

36 dominant mutation associated with childhood absence epilepsy and febrile seizures.

37 ic epilepsy, 10 patients each with childhood absence epilepsy and juvenile absence epilepsy, five pat

38 including Cacna1 g in the GAERS rat model of absence epilepsy and Kcnj10 in the low seizure threshold

39 to several neurological disorders, including absence epilepsy and neuropathic pain.

40 the astrocytic thalamic GAT-1 transporter in absence epilepsy and support an abnormal astrocytic modu

41 lepsy, four out of 10 patients with juvenile absence epilepsy and two out of five patients with tonic

42 epsy (ILAE) proposed to 'group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizure

43 T-type currents are causally related to pure absence epilepsy, and selectively identify Cacna1g, one

44 s in two of the best characterized models of absence epilepsy, and the selective activation of thalam

45 s aged 6-19 years with childhood or juvenile absence epilepsy, and with an EEG with typical 3-4 Hz bi

46 -II loop (the region in which most childhood absence epilepsy-associated mutations are found) substan

47 ithin the network during normal sleep and in absence epilepsy, but the chemical versus electrical nat

48 Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilep

49 tations apparently predisposing to childhood absence epilepsy (CAE) and other idiopathic generalized

50 Childhood absence epilepsy (CAE) is the most common paediatric epi

51 sms (SNPs) that were found only in childhood absence epilepsy (CAE) patients.

52 Childhood absence epilepsy (CAE), a common form of idiopathic gene

53 contribute to the pathogenesis of childhood absence epilepsy (CAE), but the molecular basis for alte

54 netic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME

55 Moreover, human childhood absence epilepsy (CAE)-linked hCaV3.2(C456S) mutant chan

56 tial short-term seizure outcome in childhood absence epilepsy (CAE).

57 Human absence epilepsy can be associated with dysfunction of t

58 ch are encoded by the Kcna1 gene, masked the absence epilepsy caused by a P/Q-type Ca(2+) channelopat

59 Absence epilepsy, characterized by spike-wave discharges

60 e that includes EEG discharges suggestive of absence epilepsy, chronic ataxia, and hypoactivity.

61 Several animal models of absence epilepsy, commonly accompanied by ataxia, are ca

62 In a rat genetic model of absence epilepsy, compound 30 demonstrated a robust redu

63 ilies with either pure grand mal epilepsy or absence epilepsy contributed equally to the positive LOD

64 ABSTRACT: In childhood absence epilepsy, cortical seizures are brief and interm

65 G/Rij strain (a rat model of heritable human absence epilepsy) could exercise voluntary control over

66 rrelate for persistent cognitive deficits in absence epilepsy despite effective treatment.

67 rrelate for persistent cognitive deficits in absence epilepsy despite effective treatment.

68 ffects were reversed to normal by either the absence epilepsy drug ethosuximide or a novel T-channel

69 haracterized by ataxia, focal myoclonus, and absence epilepsy due to a loss-of-function mutation in t

70 Gabrg2(+/-) KO mice are associated with mild absence epilepsy due to simple haploinsufficiency.

71 : (i) classic JME (72%), (ii) CAE (childhood absence epilepsy) evolving to JME (18%), (iii) JME with

72 with childhood absence epilepsy and juvenile absence epilepsy, five patients with tonic-clonic seizur

73 lepsy, one out of 10 patients with childhood absence epilepsy, four out of 10 patients with juvenile

74 etic epilepsy syndromes, including childhood absence epilepsy, generalized epilepsy with febrile seiz

75 veral epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic seizures and

76 Previous work in monogenic mouse models of absence epilepsy have shown that the interictal EEG disp

77 odes Ca(v)3.2) are associated with childhood absence epilepsy in a Chinese population.

78 Genetically inherited absence epilepsy in humans is typically characterized by

79 rtical spike and wave discharges (similar to absence epilepsy in humans) and a gradual degeneration o

80 ABA(A) receptor mutation gamma(2)R43Q causes absence epilepsy in humans.

81 del to study cellular mechanisms of acquired absence epilepsy in Long-Evans Hooded rats.

82 sy gene, the GABAAR alpha1 subunit, produced absence epilepsy in mice.

83 the cholesterol synthesis inhibitor model of absence epilepsy in rat.

84 abnormal thalamocortical synchronization and absence epilepsy in tg, lh, and stg mice.

85 spike-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a(8J) heterozygotes and in hete

86 scharge (SWD), characteristic of generalized absence epilepsy, in thalamic and thalamocortical circui

87 KEY POINTS: In two monogenic models of absence epilepsy, interictal beta/gamma power is augment

88 juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with generalized to

89 wakening (awakening grand mal), and juvenile absence epilepsy (JAE).

90 atient has striking parallels with the mouse absence epilepsy models.

91 ing juvenile myoclonic epilepsy (n = 93) and absence epilepsy (n = 25).

92 ges is striking and represents an example of absence epilepsy of thalamic origin.

93 hese phenomena do not always model heritable absence epilepsy or post-traumatic epilepsy in humans, a

94 nts with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened b

95 ere stomach ulcer pains, migraine headaches, absence epilepsy (petit mal) episodes, and premature ven

96 netic model of absence seizures, the genetic absence epilepsy rats from Strasbourg (GAERS), and its n

97 The 'ducky' du(2J) mouse model of ataxia and absence epilepsy represents a clean knock-out of the aux

98 dominant mutation associated with childhood absence epilepsy that generates a PTC in exon 8 of the 9

99 Childhood absence epilepsy, the most common pediatric epilepsy syn

100 swijk), an established animal model of human absence epilepsy, to perform fMRI studies with blood oxy

101 In absence epilepsy, transition periods between nonrapid-ey

102 G1D syndrome, including movement disorders, absence epilepsy (typical and atypical), and myoclonic a

103 In the WAG/Rij model of absence epilepsy, we identified a specific region of cor

104 e have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cereb

105 may contribute to some forms of generalized absence epilepsy, yet the exact role of inhibitory conne