Progressive Myoclonus Epilepsy 3 (EPM3)

Progressive Myoclonus Epilepsy 3(来自ICD-11)

别称:

Cln14 Disease

Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency

Progressive Myoclonus Epilepsy Type 3

Neuronal Ceroid Lipofuscinosis 14

Epilepsy, Progressive Myoclonic 3

Pme Type 3

Epm3

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Progressive Myoclonus Epilepsy 3, also known as cln14 disease, is related to epilepsy, progressive myoclonic, 3, with or without intracellular inclusions and epilepsy, idiopathic generalized 5. An important gene associated with Progressive Myoclonus Epilepsy 3 is KCTD7 (Potassium Channel Tetramerization Domain Containing 7). Related phenotypes are nervous system and behavior/neurological

查看原文参与反馈