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Metadata
ID DOID:0111691
Name familial adult myoclonic epilepsy 5
Definition A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1.
https://www.ncbi.nlm.nih.gov/pubmed/23518707
Xrefs

OMIM:615400

Synonyms

FAME5 [EXACT]

familial cortical myoclonic tremor and epilepsy 5 [EXACT]

FCMTE5 [EXACT]

Parent Relationships

is_a familial adult myoclonic epilepsy

is_a autosomal recessive disease

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