Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

The number of neurodegenerative diseases resulting from repeat expansion has increased
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …

Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

A pentanucleotide TTTCA repeat insertion into a polymorphic TTTTA repeat element in
SAMD12 causes benign adult familial myoclonic epilepsy. Although the precise …

Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease
characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat …

Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …

Background Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant
disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by …

The repeat expansions are the main genetic cause of various neurodegeneration diseases.
More than ten kinds of repeat sequences with different lengths, locations, and structures …

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/benign adult familial myoclonic epilepsy (FAME/BAFME)
has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant …