Literature DB >> 19469844

Familial benign nonprogressive myoclonic epilepsies.

Pasquale Striano1, Fabrizio A de Falco, Carlo Minetti, Federico Zara.   

Abstract

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.

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Year:  2009        PMID: 19469844     DOI: 10.1111/j.1528-1167.2009.02118.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  1 in total

1.  A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

Authors:  Patra Yeetong; Surasawadee Ausavarat; Roongroj Bhidayasiri; Krisna Piravej; Nath Pasutharnchat; Tayard Desudchit; Chaipat Chunharas; Jakrin Loplumlert; Chusak Limotai; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

  1 in total

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