1st Workshop on Familial Adult Myoclonic Epilepsy (FAME)

Naples, Italy

27 - 28 May 2022

ILAE Curriculum Learning Objectives addressed by this course

Familial Adult Myoclonic Epilepsy (FAME) is a rare genetic condition, characterized by the occurrence of cortical tremor, myoclonus, and generalized tonic-clonic seizures inherited in an autosomal dominant fashion. FAME is considered a slowly progressive neurodegenerative condition. The genetic cause of FAME has long remained elusive. Recently the cause has been identified as a complex intronic pentameric expansion followed by a pentameric insertion affecting different genes: SAMD12 for families linked to chr8q24 (FAME1), STARD7 for families linked to chr2p11.2-q11 (FAME2), MARCHF6 for families linked to chr5p15.31-p15 (FAME3), YEATS2 for families linked to chr3q26q28 (FAME4). Although the proteins encoded by these genes have different functions and subcellular localizations, the pathogenic mechanism might be the same. This is supported by the finding that the production of the proteins is not affected suggesting that the expansion itself could produce toxic RNA species. At this moment there is neither a resolving nor preventive treatment for FAME. Clinical management is based on anti-epileptic medications that control seizures while having a limited effect on the myoclonus. Notably, some anti-epileptic drugs are contraindicated or even deleterious in this condition. Furthermore, the treatment is complicated by the associated psychiatric comorbidities, the slow progression, and clinical anticipation with a long disease course leading to disability later in life. Elucidating the pathogenesis of this condition would provide further insight into a possible precision medicine approach.

The event is a two-day international workshop on FAME. After the identification of the genetic cause of this condition, the researchers of the FAME consortium are actively working on the possible pathogenic mechanisms underlining this condition. The workshop will aim to put together the involved researchers including clinicians, geneticists, molecular biologists, and pharmacologists to discuss the established knowledge, to introduce ongoing and future projects, and to share ideas and resources.