ライフサイエンスコーパス: absence epilepsy

1 s, and inbred WAG/Rij rats (i.e., a model of absence epilepsy).

2 rmal sleep to hypersynchrony associated with absence epilepsy.

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

4 ly mild epilepsy syndromes such as childhood absence epilepsy.

5 ous seizures in the WAG/Rij genetic model of absence epilepsy.

6 provokes seizures in patients diagnosed with absence epilepsy.

7 ted infraslow oscillations in a rat model of absence epilepsy.

8 loping next generation therapeutics to treat absence epilepsy.

9 implicated networks were similar to those of absence epilepsy.

10 peutic target for cognitive comorbidities in absence epilepsy.

11 rg (GAERS), a well-established rat model for absence epilepsy.

12 and behavior in the Scn8a(+/-)mouse model of absence epilepsy.

13 and milder forms of developmental delay with absence epilepsy.

14 ocortical circuits leading to non-convulsive absence epilepsy.

15 two freely behaving genetic rodent models of absence epilepsy.

16 ical delta oscillations and the emergence of absence epilepsy.

17 .2, contributes to disease states, including absence epilepsy.

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

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

20 and generate pathological activities during absence epilepsy.

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

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

23 ces in corticothalamic circuitry can lead to absence epilepsy.

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

25 e in children with newly diagnosed childhood absence epilepsy.

26 an lamotrigine in the treatment of childhood absence epilepsy.

27 ial therapeutic targets for the treatment of absence epilepsy.

28 s were discovered in patients with childhood absence epilepsy.

29 seizures, which resemble the human disorder absence epilepsy.

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

31 contribute to abnormal brain states such as absence epilepsy.

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

33 te to thalamocortical dysrhythmia, including absence epilepsy.

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

35 into spike-wave discharges characteristic of absence epilepsy.

36 tractive alternative for studying idiopathic absence epilepsy.

37 aker neurons that favor rebound bursting and absence epilepsy.

38 nce the abnormal rhythmicity associated with absence epilepsy.

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

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

41 ed to the gamma-butyrolactone (GBL) model of absence epilepsy, amygdala kindling model of temporal lo

42 ness are cardinal signs of seizures in human absence epilepsy and are used to model this disorder in

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

44 complex neurological disorder that includes absence epilepsy and ataxia.

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

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

47 uncovered a neuronal mechanism of BK GOF in absence epilepsy and dyskinesia.

48 3.2 channel overactivity and consequently to absence epilepsy and establish the I-II loop as an impor

49 D434G mice manifest the clinical features of absence epilepsy and exhibit severe motor deficits and d

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

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

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

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

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

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

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

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

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

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

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

61 t whether SWD/immobility accurately reflects absence epilepsy as opposed to "normal" rodent behavior.

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

63 g neurological deficits, including childhood absence epilepsy, ataxia and dystonia.

64 cluding myoclonic atonic epilepsy, childhood absence epilepsy, autism, and intellectual disability, b

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

66 n the thalamocortical computational model of absence epilepsy by using bifurcation analysis.

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

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

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

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

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

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

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

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

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

76 Human absence epilepsy can be associated with dysfunction of t

77 d to several pathological conditions such as absence epilepsy, cardiovascular diseases, and neuropath

78 tilizing a recently developed mouse model of absence epilepsy carrying the BK gain-of-function channe

79 1h gene variants reported in human childhood absence epilepsy cases.

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

81 Absence epilepsy, characterized by spike-wave discharges

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

100 Genetically inherited absence epilepsy in humans is typically characterized by

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

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

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

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

105 bility are required to objectively establish absence epilepsy in rat models.

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

107 cteristics of events underlying hypothetical absence epilepsy in rodent models are found in wild rats

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

109 We find that seizure dynamics in absence epilepsy in the Scn8a(+/-) model do not have con

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

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

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

113 Absence epilepsy is a heritable human neurological disor

114 Advancing the mechanistic understanding of absence epilepsy is crucial for developing new therapeut

115 s in the thalamus, a structure implicated in absence epilepsy, is sufficient to increase spike-wave s

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

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

118 These four GGE syndromes are childhood absence epilepsy, juvenile absence epilepsy, juvenile my

119 mes are childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilep

120 reticular nucleus-enriched, human childhood absence epilepsy-linked gene Cacna1h in iKOp/q mice redu

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

122 ) subunit was more reduced than the juvenile absence epilepsy mutant beta3 (E357K) subunit.

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

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

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

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

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

128 ual and somatosensory stimulation in Genetic Absence Epilepsy Rats from Strasbourg (GAERS), a well-es

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

130 rent rat strains were studied-inbred Genetic Absence Epilepsy Rats from Strasbourg, a model of geneti

131 In patients suffering absence epilepsy, recurring seizures can significantly d

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

133 ibly to those that have been inbred to model absence epilepsy.SIGNIFICANCE STATEMENT Spike-wave disch

134 associated with the relatively mild juvenile absence epilepsy syndrome.

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

136 Childhood absence epilepsy, the most common pediatric epilepsy syn

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

138 In absence epilepsy, transition periods between nonrapid-ey

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

140 WAG/Rij rat, an established rodent model of absence epilepsy, we demonstrate that absence seizures a

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

142 Here, using two rodent models of absence epilepsy, we show that hypoglycaemia increases t

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

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