Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions (EPM3)

Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions(来自ICD-11)

别称:

Progressive Myoclonic Epilepsy Type 3

Epm3

Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions

Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency

Progressive Myoclonus Epilepsy Type 3

Epilepsy, Progressive Myoclonic 3

Cln14 Disease

Pme Type 3

Cln14

Epilepsy, Myoclonic, Progressive, Type 3

Ceroid Lipofuscinosis, Neuronal, 14

Neuronal Ceroid Lipofuscinosis 14

Progressive Myoclonic Epilepsy 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions, also known as progressive myoclonic epilepsy type 3, is related to progressive myoclonus epilepsy 3, and has symptoms including ataxia, truncal and myoclonic seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions is KCTD7 (Potassium Channel Tetramerization Domain Containing 7). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and dysarthria

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