Phenotype #0000208036

Individual ID 00271428
Associated disease FAME
Diagnosis/Initial familial adult myoclonic epilepsy
Diagnosis/Definite FAME2
Phenotype details mean age onset 18.6y (4-60y); myoclonus/cortical tremor 55/55, tonic-clonic seizures 8/55, focal seizures 2/55; intellectual disability 0/55; dementia 1/55 (88y); drug resistant epilepsy 0/55; ataxia 0/55migraine: 18/55
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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.