Long-read sequencing platforms provide unparalleled access to the structure and
composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This …

Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased
sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the …

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …

Abstract Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder
characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in …

Epilepsy is a common neurological disorder and identification of its causes is important for a
better understanding of its pathogenesis. We previously studied a Thai family with a type of …

Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked
recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease …

Background The locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long
been mapped to 8q24 in linkage studies, but the causative mutations remain unclear …

Familial cortical myoclonic tremor with epilepsy is an autosomal dominant
neurodegenerative disease, characterized by cortical tremor and epileptic seizures …

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 …

Abstract Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic
tremor usually from the second decade of life and overt myoclonic or generalised tonic …