Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, and Electrolyte Imbalance (SESAMES)

癫痫发作-感音神经性耳聋-共济失调-智力发育受损-电解质失衡(来自ICD-11)

别称:

Sesame Syndrome

East Syndrome

Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome

Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome

Sesames

Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation and Electrolyte Imbalance

Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy

Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy

Epilepsy Ataxia Sensorineural Deafness and Tubulopathy

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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、感觉神经性耳聋、共济失调、智力障碍和电解质失衡，也被称为芝麻综合症，与感觉神经性听力损失和低钾血症有关，其症状包括共济失调、多尿和癫痫发作。与癫痫、感觉神经性耳聋、共济失调、智力障碍和电解质失衡有关的重要基因是KCNJ10（钾离子内向整流通道家族J成员10），其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和化学突触的传递。已提及的药物包括雷帕霉素和苯佐卡因。相关组织包括肾脏和肝脏，相关表型包括智力障碍和癫痫发作。

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