ライフサイエンスコーパス: focal cortical dysplasia

1 euronal organization consistent with type Ia focal cortical dysplasia.

2 ing, pathological aging, and the presence of focal cortical dysplasia.

3 ions, such as tuberous sclerosis complex and focal cortical dysplasia.

4 s, both non-lesional and in association with focal cortical dysplasia.

5 epilepsy surgery with hemimegalencephaly or focal cortical dysplasia.

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

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

8 tionally had schizencephaly, heterotopia, or focal cortical dysplasia.

9 mpromise the formation of neural networks in focal cortical dysplasia.

10 ay play a causal role in the pathogenesis of focal cortical dysplasias.

11 Developmental abnormalities consisted of focal cortical dysplasia (5), heterotopia (2), hamartoma

12 encephaly and intractable epilepsy, one with focal cortical dysplasia and intractable epilepsy, and o

13 s name is linked to the first description of focal cortical dysplasia and limbic encephalitis, the pa

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

15 e beneficial, particularly for patients with focal cortical dysplasia and unilateral hemispheric malf

16 ons about the prevalence of HPV infection in focal cortical dysplasias and about its potential import

17 Focal cortical dysplasias are a common subtype of malfor

18 l elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractab

19 lish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic

20 Binding was reduced within focal cortical dysplasia but increased in adjacent corte

21 Focal cortical dysplasia cortical organoids showed downr

22 n of patients with lesional epilepsies (e.g. focal cortical dysplasia, epilepsy-associated tumours) w

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

24 ormations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (H

25 Focal cortical dysplasia (FCD) are associated with neuro

26 ATEMENT Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are epileptogenic cortica

27 Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malformations o

28 The purpose of this study was to evaluate if focal cortical dysplasia (FCD) co-localization to cortic

29 ical and ultrastructural patterns in type II focal cortical dysplasia (FCD) have been studied to expl

30 with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa.

31 P), aiming to facilitate detection of subtle focal cortical dysplasia (FCD) in MRI- patients.

32 Focal cortical dysplasia (FCD) is a common and important

33 ptom of tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) is early life refractory

34 nt focal epilepsy, typically associated with focal cortical dysplasia (FCD) type 2, understanding the

35 Focal cortical dysplasia (FCD) type II is a highly epile

36 Focal cortical dysplasia (FCD) type II is an important c

37 Focal cortical dysplasia (FCD), a local malformation of

38 everal components are somatically mutated in focal cortical dysplasia (FCD), a neurological disorder

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

40 volvement in a developmental disorder, human focal cortical dysplasia (FCD), focusing on chloride reg

41 nes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME)

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

43 complex (TSC)-associated cortical tubers and focal cortical dysplasia (FCD), we performed qualitative

44 al lobe epilepsy (FLE) that is distinct from focal cortical dysplasia (FCD).

45 P(+) areas contained mainly non-balloon-cell focal cortical dysplasia (FCD).

46 ing in detecting and delineating microscopic focal cortical dysplasia (FCD).

47 neuroepithelial tumours (DNTs; eight cases), focal cortical dysplasia (FCD; 14 cases) and hippocampal

48 immunohistochemistry in the core of type II focal cortical dysplasias (FCD-II), at the FCD boundary

49 Focal cortical dysplasias (FCDs) are malformations of co

50 s the identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI.

51 imed to further extend the role of DEPDC5 to focal cortical dysplasias (FCDs).

52 earning algorithm for automated detection of focal cortical dysplasias, giving physicians greater con

53 In the developmental group, low-grade focal cortical dysplasias had better outcome than hetero

54 Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cel

55 s of the complex structural abnormalities of focal cortical dysplasia have been proposed - from Taylo

56 formations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalen

57 TOR mutations are specifically causal in the focal cortical dysplasia-hemimegalencephaly spectrum.

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

59 dysplastic tissue from a female patient with focal cortical dysplasia IIIa with hippocampal sclerosis

60 abnormalities like hippocampal sclerosis and focal cortical dysplasia in epilepsy, crucial for accura

61 Focal cortical dysplasia is a highly epileptogenic corti

62 Focal cortical dysplasia is a malformation of cortical d

63 Importantly, focal cortical dysplasia is the most common cause of foc

64 We used an established focal cortical dysplasia model generated by in utero ele

65 lesions, 10 low-grade glioma, 3 cavernoma, 4 focal cortical dysplasia; NEL_INST: 11 patients, 33 lesi

66 hemimegalencephaly, two polymicrogyria, two focal cortical dysplasia, one diffuse cortical dysplasia

67 imaging abnormalities, i.e. polymicrogyria, focal cortical dysplasia or normal imaging, and EEG find

68 ability and enhanced network connectivity in focal cortical dysplasia organoids.

69 ession suggests that new cells may arrive in focal cortical dysplasia, perhaps deriving in part from

70 some of the most common or enlightening MCD: focal cortical dysplasia, periventricular heterotopia, p

71 tal retardation and seizures associated with focal cortical dysplasias, subependymal nodules, and sub

72 dictor for surgical outcome in patients with focal cortical dysplasia than the presence of a lesion o

73 astic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intra

74 d to cell growth (ie, in the mTOR pathway in focal cortical dysplasia type 2), which are acquired in

75 plication including AKT3 in association with focal cortical dysplasia type 2a with hyaline astrocytic

76 Four of 48 cases with focal cortical dysplasia type I (8%) had a likely pathog

77 Focal cortical dysplasia type I (FCD I) is the most comm

78 3 children with hemimegalencephaly (n = 16), focal cortical dysplasia type I and related phenotypes (

79 l disease genes like those identified in the focal cortical dysplasia type I cohort were found in 63

80 disease-causing somatic variants across the focal cortical dysplasia type I cohort, four individuals

81 to focal cortical dysplasia type II, neither focal cortical dysplasia type I nor III had somatic vari

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

83 study, we induced various mosaic burdens in focal cortical dysplasia type II (FCD II) mice, featurin

84 asia type I and related phenotypes (n = 48), focal cortical dysplasia type II (n = 44), or focal cort

85 Focal cortical dysplasia type II is typically caused by

86 and astrocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless o

87 In contrast to focal cortical dysplasia type II, neither focal cortical

88 viduals with hemimegalencephaly and 29% with focal cortical dysplasia type II, we identified pathogen

89 human cortical organoids from patients with focal cortical dysplasia type II.

90 stic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa.

91 Focal cortical dysplasia type IIB (FCDIIB) is a sporadic

92 The etiology of focal cortical dysplasia type IIb (FCDIIb) remains enigm

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

94 Focal cortical dysplasia type IIB with Ballon cells is a

95 of the association between HPV infection and focal cortical dysplasia type IIb, and its reproducibili

96 high proportion of pathological specimens of focal cortical dysplasia type IIb, but not in control sp

97 sion, histopathological lesions, tumours and focal cortical dysplasia type IIb.

98 ocal cortical dysplasia type II (n = 44), or focal cortical dysplasia type III (n = 15).

99 more recently in SLC35A2 in individuals with focal cortical dysplasia (type I) or non-dysplastic epil

100 y in individuals with hemimegalencephaly and focal cortical dysplasia (type II), and more recently in

101 Importantly, we demonstrate that focal cortical dysplasia types I, II and III are associa

102 istopathological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis a

103 formations of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7%

104 nic MTOR variants are mostly associated with focal cortical dysplasia, whereas pathogenic PIK3CA vari

105 of cortical dysplasia are recognized.Type I focal cortical dysplasia with mild symptomatic expressio

106 Patients with focal cortical dysplasia, with and without a detectable