Familial benign nonprogressive myoclonic epilepsies.
Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear pattern of inheritance or on the identification of new chromosomal genetic loci linked to the disease. These forms in development include familial infantile myoclonic epilepsy (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME). In the future, the identification of responsible genes and the protein products will contribute to our understanding of the molecular pathways of epileptogenesis and provide neurobiologic criteria for the classification of epilepsies, beyond the different phenotypic expression.
Striano
Pasquale
P
Muscular and Neurodegenerative Diseases Unit, G. Gaslini Institute, University of Genova, Genova, Italy. pstriano@email.it
de Falco
Fabrizio A
FA
Minetti
Carlo
C
Zara
Federico
F
D002540:Cerebral Cortex / Q000503:physiopathology; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans