Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models
with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia …

Cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired
speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in …

Atrial fibrillation is the most common cardiac arrhythmia and leads to stroke. To investigate
genetic loci associated with atrial fibrillation in the Japanese population, we performed a …

The voltage-gated ion channel activity depends on both activation (transition from the resting
state to the open state) and inactivation. Inactivation is a self-restraint mechanism to limit ion …

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of
devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported …

Transient potassium current channels (IA channels), which are expressed in most brain
areas, have a central role in modulating feedforward and feedback inhibition along the …

Background Identification of the first de novo mutation in potassium voltage-gated channel,
shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar …

In this review we explore the similarities between spinocerebellar ataxias and dystonias,
and suggest potentially shared molecular pathways using a gene co-expression network …

Purkinje neuron dendritic degeneration precedes cell loss in cerebellar ataxia, but the basis
for dendritic vulnerability in ataxia remains poorly understood. Recent work has suggested …

Introduction Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which
relatively isolated cerebellar involvement is frequently associated with cognitive impairment …