Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in
response to acoustic or tactile stimuli. Genetic analysis of this disorder has revealed …

A large number of genes encoding for tubulin proteins are expressed in the developing
brain. Each is subject to specific spatial and temporal expression patterns. However, most …

Glycine receptors (GlyRs) and specific subtypes of GABAA receptors are clustered at
synapses by the multidomain protein gephyrin, which in turn is translocated to the cell …

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-
onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Hyperekplexia is a human neurological disorder characterized by an excessive startle
response and is typically caused by missense and nonsense mutations in the gene …

Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder
caused by an expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene …

We previously showed that mutations in LIS1 and DCX account for∼ 85% of patients with
the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a …

Myelin loss is frequently observed in human Alzheimer's disease (AD) and may constitute to
AD‐related cognitive decline. A potential source to repair myelin defects are the …

One of the challenges for modern neuroscience is to understand the basis of coordinated
neuronal function and networking in the human brain. Some of these questions can be …