Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)

Rolandic区癫痫伴有阵发性运动诱导的肌张力障碍和书写痉挛(来自ICD-11)

别称:

Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome

Re-Ped-Wc

Eprpdc

Epilepsy, Rolandic, with Proxysmal Exercise-Induce Dystonia and Writer's Cramp

Epilepsy, Rolandic, with Paroxysmal Exercise-Induce Dystonia and Writer's Cramp

Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp

Rolandic Epilepsy with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp

Rolandic-Type Focal Motor Epilepsy and Exercise-Induced Dystonia

Rolandic Epilepsy Exercise-Induced Dystonia

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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

癫痫，罗兰氏，伴有阵发性运动诱发肌张力障碍和书写痉挛，也称为罗兰氏癫痫-阵发性运动诱发肌张力障碍-书写痉挛综合征，与中心颞棘波和癫痫有关，家族性婴儿期，伴有阵发性舞蹈手足徐动症，并有肌张力障碍等症状。与癫痫，罗兰氏，伴有阵发性运动诱发肌张力障碍和书写痉挛相关的基因是TBC1D24（TBC1域家族成员24）。相关表型为水平眼震和书写痉挛。

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