ライフサイエンスコーパス: cortical dysplasia

1 tor of seizure freedom following surgery for cortical dysplasia.

2 ological evidence of developmental tumors or cortical dysplasia.

3 such as tuberous sclerosis complex and focal cortical dysplasia.

4 h non-lesional and in association with focal cortical dysplasia.

5 psy surgery with hemimegalencephaly or focal cortical dysplasia.

6 annel in a mouse model of frontal lobe focal cortical dysplasia.

7 terotopia and diffuse megalencephaly without cortical dysplasia.

8 with an ultra-rare DEPDC5 variant and focal cortical dysplasia.

9 ly had schizencephaly, heterotopia, or focal cortical dysplasia.

10 se the formation of neural networks in focal cortical dysplasia.

11 arachnoid space results in the formation of cortical dysplasia.

12 y, centrally predominant polymicrogyria-like cortical dysplasia.

13 l organization consistent with type Ia focal cortical dysplasia.

14 to differentiate between type I and type II cortical dysplasia.

15 factors are involved in the pathogenesis of cortical dysplasia.

16 athological aging, and the presence of focal cortical dysplasia.

17 meningeal differentiation can lead to severe cortical dysplasia.

18 aches for childhood epilepsy associated with cortical dysplasia.

19 daptor proteins, FE65 and FE65L1, results in cortical dysplasia.

20 t in epilepsy and mental retardation without cortical dysplasia.

21 bitory synaptic transmission in experimental cortical dysplasia.

22 well as in the pathogenesis of certain human cortical dysplasias.

23 y a causal role in the pathogenesis of focal cortical dysplasias.

24 g patients with tumor (36 of 44, 82%) versus cortical dysplasia (16 of 31, 52%).

25 velopmental abnormalities consisted of focal cortical dysplasia (5), heterotopia (2), hamartoma (3),

26 f MTOR pathway genes is an emerging cause of cortical dysplasia and epilepsy in the paediatric popula

27 aly and intractable epilepsy, one with focal cortical dysplasia and intractable epilepsy, and one dys

28 is linked to the first description of focal cortical dysplasia and limbic encephalitis, the patholog

29 Cortical dysplasia and low-grade tumor were the most com

30 n utero irradiation of rats produces diffuse cortical dysplasia and neuronal heterotopia in the neoco

31 a, two focal cortical dysplasia, one diffuse cortical dysplasia and one microdysgenesis), acquired in

32 dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria).

33 f central pachygyria and polymicrogyria-like cortical dysplasia and simplified gyral malformation syn

34 cytomegalic neurons in focal or hemispheric cortical dysplasia and to determine whether the activity

35 ficial, particularly for patients with focal cortical dysplasia and unilateral hemispheric malformati

36 out the prevalence of HPV infection in focal cortical dysplasias and about its potential importance a

37 In general, three types of cortical dysplasia are recognized.Type I focal cortical

38 Focal cortical dysplasias are a common subtype of malformation

39 ents, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable pae

40 egalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectr

41 Long-term overexpression of Wnt3a led to cortical dysplasia associated with the formation of larg

42 iation that is transient and localized, with cortical dysplasia at later stages.

43 Binding was reduced within focal cortical dysplasia but increased in adjacent cortex.

44 The remainder had a polymicrogyria-like cortical dysplasia, but the grey matter malformation was

45 tions in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutat

46 Cortical dysplasia can be caused by cellular defects in

47 two groups: patients with highly asymmetric cortical dysplasia caused by the common p.E17K mutation,

48 Cortical dysplasia (CD) is often associated with pharmac

49 in brain samples resected from patients with cortical dysplasia (CD), which was correlated with durat

50 The cortex of patients with cortical dysplasia contains several abnormal cell types.

51 Focal cortical dysplasia cortical organoids showed downregulat

52 atients with lesional epilepsies (e.g. focal cortical dysplasia, epilepsy-associated tumours) will pr

53 Balloon cells (BCs) in focal cortical dysplasia (FCD) and giant cells (GCs) in tubers

54 ons of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), a

55 Focal cortical dysplasia (FCD) are associated with neurologica

56 T Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are epileptogenic cortical malf

57 Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malformations of cort

58 rpose of this study was to evaluate if focal cortical dysplasia (FCD) co-localization to cortical fun

59 nd ultrastructural patterns in type II focal cortical dysplasia (FCD) have been studied to explain th

60 ocal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa.

61 ming to facilitate detection of subtle focal cortical dysplasia (FCD) in MRI- patients.

62 Focal cortical dysplasia (FCD) is a common and important cause

63 f tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) is early life refractory epilep

64 al epilepsy, typically associated with focal cortical dysplasia (FCD) type 2, understanding the mecha

65 Focal cortical dysplasia (FCD) type II is a highly epileptogen

66 Focal cortical dysplasia (FCD) type II is an important cause o

67 Focal cortical dysplasia (FCD), a local malformation of cortic

68 components are somatically mutated in focal cortical dysplasia (FCD), a neurological disorder charac

69 neural development is associated with focal cortical dysplasia (FCD), autism, and epilepsy.

70 ent in a developmental disorder, human focal cortical dysplasia (FCD), focusing on chloride regulatio

71 e emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and t

72 This figure is the same for focal cortical dysplasia (FCD), the most common variety of MCD

73 x (TSC)-associated cortical tubers and focal cortical dysplasia (FCD), we performed qualitative and s

74 detecting and delineating microscopic focal cortical dysplasia (FCD).

75 e epilepsy (FLE) that is distinct from focal cortical dysplasia (FCD).

76 reas contained mainly non-balloon-cell focal cortical dysplasia (FCD).

77 pithelial tumours (DNTs; eight cases), focal cortical dysplasia (FCD; 14 cases) and hippocampal scler

78 ohistochemistry in the core of type II focal cortical dysplasias (FCD-II), at the FCD boundary (peril

79 Focal cortical dysplasias (FCDs) are malformations of cortical

80 identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI.

81 o further extend the role of DEPDC5 to focal cortical dysplasias (FCDs).

82 of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephal

83 g algorithm for automated detection of focal cortical dysplasias, giving physicians greater confidenc

84 In the developmental group, low-grade focal cortical dysplasias had better outcome than heterotopia

85 ing this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell prol

86 Cortical dysplasia has a strong association with epileps

87 he complex structural abnormalities of focal cortical dysplasia have been proposed - from Taylor et a

88 ions of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephal

89 tations are specifically causal in the focal cortical dysplasia-hemimegalencephaly spectrum.

90 splay type I lissencephaly, a severe form of cortical dysplasia hypothesized to result from abnormal

91 epileptic cortices presenting type II focal cortical dysplasia (IIa and b), hippocampi with or witho

92 stic tissue from a female patient with focal cortical dysplasia IIIa with hippocampal sclerosis.

93 edge, this is the first report of cerebellar cortical dysplasia in a family with AOS.

94 alities like hippocampal sclerosis and focal cortical dysplasia in epilepsy, crucial for accurate sur

95 ssibility that primary meningeal defects may cortical dysplasia in some cases.

96 lioneuronal heterotopias are a focal type of cortical dysplasia in which neural cells migrate aberran

97 Focal cortical dysplasia is a highly epileptogenic cortical ma

98 Cortical dysplasia is a major cause of intractable epile

99 Focal cortical dysplasia is a malformation of cortical develop

100 Importantly, focal cortical dysplasia is the most common cause of focal int

101 We used an established focal cortical dysplasia model generated by in utero electropo

102 h drug-resistant epilepsy.However, in type I cortical dysplasia, MR imaging is often normal, and also

103 ) central pachygyria and polymicrogyria-like cortical dysplasia (n = 24); (iv) generalized polymicrog

104 = 24); (iv) generalized polymicrogyria-like cortical dysplasia (n = 6); and (v) a 'simplified' gyral

105 s, 10 low-grade glioma, 3 cavernoma, 4 focal cortical dysplasia; NEL_INST: 11 patients, 33 lesions, a

106 eveal the presence and the border of type II cortical dysplasia on MRI, a quantitative ROI-based anal

107 egalencephaly, two polymicrogyria, two focal cortical dysplasia, one diffuse cortical dysplasia and o

108 diagnosed with multiple sclerosis, one with cortical dysplasia, one with pineal hemorrhage and one w

109 ng abnormalities, i.e. polymicrogyria, focal cortical dysplasia or normal imaging, and EEG findings,

110 y and enhanced network connectivity in focal cortical dysplasia organoids.

111 suggests that new cells may arrive in focal cortical dysplasia, perhaps deriving in part from the su

112 f the most common or enlightening MCD: focal cortical dysplasia, periventricular heterotopia, polymic

113 Cortical dysplasia resembling cobblestone cortex, with b

114 tardation and seizures associated with focal cortical dysplasias, subependymal nodules, and subependy

115 growth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal co

116 ranges from lissencephalic to polymicrogyric cortical dysplasias, suggesting shared pathogenic mechan

117 n large dysplastic cells microdissected from cortical dysplasia surgical specimens was used to identi

118 for surgical outcome in patients with focal cortical dysplasia than the presence of a lesion on magn

119 megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable

120 ype II dysplasias and in only some of type I cortical dysplasias.THE MOST COMMON FINDINGS ON MRI IMAG

121 logy, hippocampal sclerosis, malformation of cortical dysplasia, tumor, encephalitis, and gliosis.

122 ell growth (ie, in the mTOR pathway in focal cortical dysplasia type 2), which are acquired in neuron

123 ion including AKT3 in association with focal cortical dysplasia type 2a with hyaline astrocytic inclu

124 Four of 48 cases with focal cortical dysplasia type I (8%) had a likely pathogenic v

125 Focal cortical dysplasia type I (FCD I) is the most common cau

126 dren with hemimegalencephaly (n = 16), focal cortical dysplasia type I and related phenotypes (n = 48

127 ase genes like those identified in the focal cortical dysplasia type I cohort were found in 63 neurol

128 se-causing somatic variants across the focal cortical dysplasia type I cohort, four individuals in th

129 al cortical dysplasia type II, neither focal cortical dysplasia type I nor III had somatic variants i

130 at 2 years were seen for patients with focal cortical dysplasia type I or mild malformation of cortic

131 , we induced various mosaic burdens in focal cortical dysplasia type II (FCD II) mice, featuring mTOR

132 ype I and related phenotypes (n = 48), focal cortical dysplasia type II (n = 44), or focal cortical d

133 Focal cortical dysplasia type II is typically caused by somati

134 trocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless of the

135 In contrast to focal cortical dysplasia type II, neither focal cortical dyspl

136 s with hemimegalencephaly and 29% with focal cortical dysplasia type II, we identified pathogenic var

137 cortical organoids from patients with focal cortical dysplasia type II.

138 egalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa.

139 Focal cortical dysplasia type IIB (FCDIIB) is a sporadic devel

140 The etiology of focal cortical dysplasia type IIb (FCDIIb) remains enigmatic i

141 We identified 14 specimens of focal cortical dysplasia type IIb from a single surgical cente

142 Focal cortical dysplasia type IIB with Ballon cells is a devel

143 association between HPV infection and focal cortical dysplasia type IIb, and its reproducibility acr

144 roportion of pathological specimens of focal cortical dysplasia type IIb, but not in control specimen

145 histopathological lesions, tumours and focal cortical dysplasia type IIb.

146 ortical dysplasia type II (n = 44), or focal cortical dysplasia type III (n = 15).

147 ecently in SLC35A2 in individuals with focal cortical dysplasia (type I) or non-dysplastic epileptic

148 ndividuals with hemimegalencephaly and focal cortical dysplasia (type II), and more recently in SLC35

149 Importantly, we demonstrate that focal cortical dysplasia types I, II and III are associated wi

150 nical symptoms are more severe in type II of cortical dysplasia usually seen in children.

151 thological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis among c

152 ions of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7% of ca

153 or the cognitive impairment in the rats with cortical dysplasia was the underlying brain substrate, n

154 OR variants are mostly associated with focal cortical dysplasia, whereas pathogenic PIK3CA variants a

155 with focal or multifocal polymicrogyria-like cortical dysplasia with abnormal and simplified gyral pa

156 rtical dysplasia are recognized.Type I focal cortical dysplasia with mild symptomatic expression and

157 Patients with focal cortical dysplasia, with and without a detectable lesion

158 esected TSC tubers, FCDs with balloon cells, cortical dysplasia without balloon cells, and histologic