Developmental and Epileptic Encephalopathy 36 (DEE36)

发育性和癫痫性脑病36型(来自ICD-11)

别称:

Congenital Disorder of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder of Glycosylation, Type is

Congenital Disorder of Glycosylation, Type Ie

Congenital Disorder of Glycosylation Type 1e

Cdg1s

Cdg1e

Developmental and Epileptic Encephalopathy, 36

Congenital Disorder of Glycosylation Type is

Congenital Disorder of Glycosylation Ie

Congenital Disorder of Glycosylation 1e

Eiee36

Cdg is

Cdg-is

Dee36

Cdgis

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Glycosylation, Congenital Disorder of, Type Ie

Congenital Disorder of Glycosylation, Type Iu

Glycosylation, Congenital Disorder of, Type I

Congenital Disorder of Glycosylation Type 1s

Congenital Disorder of Glycosylation Type Ie

Congenital Disorder of Glycosylation Type 1a

Early Infantile Epileptic Encephalopathy 36

Congenital Disorder of Glycosylation 1s

Dol-P-Mannosyltransferase Deficiency

Cdg Syndrome Type is

Cdg Syndrome Type Ie

Alg13-Cdg

Dpm1-Cdg

Cdg Ie

Cdg-Ie

Cdgie

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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

发育性和癫痫性脑病36，也称为先天性糖基化障碍型I，与先天性糖基化障碍型IIf和先天性糖基化障碍型IA有关，症状包括共济失调、腹泻和癫痫发作。与发育性和癫痫性脑病36有关的重要基因是ALG13（ALG13 UDP-N-乙酰基葡萄糖胺转移酶亚基），其相关通路/超级通路包括蛋白质代谢和传染病。相关组织包括肝脏和眼睛，相关表型为婴儿痉挛和癫痫发作。

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