The intrinsic electrical properties and the synaptic input-output relationships of neurons are
governed by the action of voltage-dependent ion channels. The localization of specific …

The intrinsic electrical properties of neurons are shaped in large part by the action of voltage-
gated ion channels. Molecular cloning studies have revealed a large family of ion channel …

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited,
neurodegenerative disease caused by an expansion of polyglutamine tracts in the cytosolic …

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 …

Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by
ataxin-3 with a polyglutamine expansion. It is proposed that a toxic cleavage fragment of …

Ion channelopathies are a diverse array of human disorders caused by mutations in ion
channel genes. This review focuses on the pathogenic mechanisms of channelopathies …

Ataxia is a neurological disorder characterized by loss of control of body movements.
Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is …

Several inherited human neurological disorders can be caused by mutations in genes
encoding Ca 2+ channel subunits. This review deals with known human and mouse calcium …

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 …

This review addresses the molecular and cellular mechanisms of diseases caused by
inherited mutations of ion channels in neurones. Among important recent advances is the …