The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in
mammals and is controlled by specialized RNA-binding proteins. The misregulation of …

Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

▪ Abstract The superfamily of intermediate filament (IF) proteins contains at least 65 distinct
proteins in man, which all assemble into∼ 10 nm wide filaments and are principal structural …

Ultra-deep RNA sequencing has become a powerful approach for genome-wide analysis of
pre-mRNA alternative splicing. We develop MATS (multivariate analysis of transcript …

When genome variants are identified in genomic DNA, especially during routine analysis of
disease-associated genes, their functional implications might not be immediately evident …

Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years
ago, more than 150 mutations have been described in patients with epilepsy. Many are …

Alternative splicing is the major source of proteome diversity in humans and thus is highly
relevant to disease and therapy. For example, recent work suggests that the long-sought …

Acute, inflammatory, and neuropathic pain can all be attenuated or abolished by local
treatment with sodium channel blockers such as lidocaine. The peripheral input that drives …

The entire length of myelinated axons is organized into a series of polarized domains that
center around nodes of Ranvier. These domains, which are crucial for normal saltatory …