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GENATLAS PHENOTYPE

last update : 21-11-2018

Symbol	BAFME5
Location	1q32.1
Name	epilepsy, familial adult myoclonic,5
Corresponding gene	CNTN2
Other symbol(s)	FAME5, FCMTE5
Main clinical features	onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life, often associated to neuropsychiatric abnormalities seizure types included both complex partial seizures and generalized seizures, often with an olfactory, auditory, or visual aura
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)