Phenotype #0000208046

Individual ID	00271438
Associated disease	FAME
Diagnosis/Initial	familial adult myoclonic epilepsy
Diagnosis/Definite	FAME2
Phenotype details	mean age onset 15.5y (13-18y); myoclonus/cortical tremor 5/5, tonic-clonic seizures 4/5, focal seizures 0/5; intellectual disability 0/5; dementia 1/5 (>70y); drug resistant epilepsy 0/5; ataxia 0/5
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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