Focal Cortical Dysplasia, Type Ii (FCORD2)

局灶性皮质发育不良2型(来自ICD-11)

别称:

Focal Cortical Dysplasia of Taylor

Cortical Dysplasia of Taylor, Dysplasia Only

Cortical Dysplasia of Taylor

Fcord2

Fcdt

Fcd2

Cdt

Focal Cortical Dysplasia of Taylor Balloon Cell Type

Cortical Dysplasia of Taylor Without Balloon Cells

Focal Cortical Dysplasia, Taylor Balloon Cell Type

Cortical Dysplasia of Taylor with Balloon Cells

Focal Cortical Dysplasia of Taylor, Type Iib

Focal Cortical Dysplasia, Type Ii, Somatic

Isolated Focal Cortical Dysplasia Type Iib

Isolated Focal Cortical Dysplasia Type Iia

Isolated Focal Cortical Dysplasia Type Ii

Focal Cortical Dysplasia, Type Iia

Focal Cortical Dysplasia, Type Iib

Dysplasia, Cortical, Focal Type Ii

Isolated Focal Cortical Dysplasia

Focal Cortical Dysplasia Type 2

Focal Cortical Dysplasia 2

Epilepsy Due to Fcd

Fcd Type Iib

Fcd Type Iia

Fcd Iia

Fcd Iib

Fcord2a

Fcord2b

Cdtbc

Fcdbc

Cdtd

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

局灶性皮质发育不良，II型，也称为泰勒局灶性皮质发育不良，与孤立性局灶性皮质发育不良II型和癫痫有关。与局灶性皮质发育不良，II型相关的重要基因是TSC2（TSC复合物亚基2），其相关通路/超级通路包括催乳素信号通路和Akt信号通路。在该疾病的背景下提到了药物坦西罗莫司和西罗莫司。附属组织包括大脑和皮质，相关表型为癫痫和神经系统异常。

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