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Benign adult familial myoclonic epilepsy

Disease Export to PDF
Name:
Benign adult familial myoclonic epilepsy
Description:
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
ORPHAcode:
86814
Synonyms:
ADCME
Autosomal dominant cortical myoclonus and epilepsy
BAFME
Benign adult familial myoclonus epilepsy
FAME
FCMTE
Familial adult myoclonic epilepsy
Familial cortical myoclonic tremor and epilepsy
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
SAMD12
YEATS2
CTNND2
CNTN2
ADRA2B
MARCHF6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14