Phenotype #0000208051

Individual ID 00271443
Associated disease FAME
Diagnosis/Initial familial adult myoclonic epilepsy
Diagnosis/Definite FAME2
Phenotype details mean age onset 21y (12-32y); myoclonus/cortical tremor 10/10, tonic-clonic seizures 4/10, focal seizures 2/10; intellectual disability 0/10; dementia 0/8 (2 deceased unknown); drug resistant epilepsy 1/10; ataxia 0/10
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-12-19 13:57:03 +01:00 (CET)
Date last edited 2019-12-19 15:56:31 +01:00 (CET)

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