Genetics of familial adult myoclonus epilepsy: from linkage studies to noncoding repeat expansions

MA Corbett, C Depienne, L Veneziano, KM Klein… - …, 2023 - Wiley Online Library
Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many
years has resisted understanding of its underlying molecular cause. This review covers the …

Familial adult myoclonus epilepsy: a non-coding repeat expansion disorder of cerebellar–thalamic–cortical loop

C Cuccurullo, P Striano, A Coppola - Cells, 2023 - mdpi.com
Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that
has been reported under different acronyms and initially linked to four main loci: FAME1 …

History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world

SF Berkovic, P Striano, S Tsuji - Epilepsia, 2023 - Wiley Online Library
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME)
has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant …

Phenotype and management of neurologic intronic repeat disorders (NIRDs)

J Finsterer - Revue neurologique, 2023 - Elsevier
During recent years an increasing number of neurologic disorders due to expanded tri-, tetra-
, penta-, or hexa-nucleotide repeat motifs in introns of various genes have been described …

Solution nuclear magnetic resonance structures of ATTTT and ATTTC pentanucleotide repeats associated with SCA37 and FAMEs

J Li, L Wan, Y Wang, Y Chen, HK Lee… - ACS Chemical …, 2022 - ACS Publications
Expansions of ATTTT and ATTTC pentanucleotide repeats in the human genome are
recently found to be associated with at least seven neurodegenerative diseases, including …

[PDF][PDF] Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop. Cells 2023, 12, 1617

C Cuccurullo, P Striano, A Coppola - 2023 - iris.unina.it
Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that
has been reported under different acronyms and initially linked to four main loci: FAME1 …

Editorial April 2021

TL Spires-Jones - Brain Communications, 2021 - academic.oup.com
Welcome to Volume 3, Issue 2, of Brain Communications! The volume of our published
papers has steadily increased, despite the difficulties, many researchers have faced during …

[HTML][HTML] Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

P Jagota, Y Ugawa, Z Aldaajani… - Journal of Movement …, 2023 - ncbi.nlm.nih.gov
Clinical case studies and reporting are important to the discovery of new disorders and the
advancement of medical sciences. Both clinicians and basic scientists play equally …