In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

Among the severe side effects induced by cisplatin chemotherapy, muscle wasting is the
most relevant one. This effect is a major cause for a clinical decline of cancer patients, since …

Mutations in the CACNA1A gene that encodes the pore-forming α 1 subunit of human
voltage-gated Ca V 2.1 (P/Q-type) Ca 2+ channels cause several autosomal-dominant …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …

Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most
prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented …

The past two decades have witnessed the emergence of a new and expanding field of
neurological diseases—the genetic ion channelopathies. These disorders arise from …

The brainstem is a structurally complex region, containing numerous ascending and
descending fibres that converge on centres that regulate bodily functions essential to life …

Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous
loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 …

Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent
attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the …

Alternative splicing of pre-mRNAs is prominent in the mammalian brain, where it is thought
to expand proteome diversity. For example, alternative splicing of voltage-gated Ca 2+ …