Huntington’s disease (HD) is a fatal degenerative disorder affecting the nervous system. It is
characterized by motor, cognitive, and psychiatric dysfunctions, with a late onset and an …

Objective Pharmacoresistance and the lack of disease‐modifying actions of current antiseizure
drugs persist as major challenges in the treatment of epilepsy. Experimental models of …

Formation of Tau aggregates is a common pathological feature of tauopathies and their
accumulation directly correlates with cytotoxicity and neuronal degeneration. Great efforts have …

Temporal lobe epilepsy is the most common and refractory form of epilepsy in adults. Gene
expression within affected structures such as the hippocampus displays extensive …

Background Schizophrenia (SCZ) is caused by an interplay of polygenic risk and
environmental factors, which may alter regulators of gene expression leading to pathogenic …

Objective Posttranscriptional mechanisms are increasingly recognized as important
contributors to the formation of hyperexcitable networks in epilepsy. Messenger RNA (mRNA) …

Background The fragile histidine triad (FHIT) contains a chromosomal fragile site (FRA3B)
responsible for rearrangements associated with various cancers. A recent pan-cancer whole …

The molecular mechanisms that shape the gene expression landscape during the development
and maintenance of chronic states of brain hyperexcitability are incompletely understood…

Tau is a neuronal microtubule-associated protein (MAP), since its key biological role is
promoting of assembly and stability of microtubules (MTs) 1 in neurons. This ability depends on …

We report here a novel de novo missense variant affecting the last amino acid of exon 30 of
CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy presenting mild …