Many cellular functions are regulated by calcium (Ca2+) signals that are generated by
different signaling pathways. One of these is the inositol 1, 4, 5-trisphosphate/calcium …

Voltage-gated calcium channels (VGCCs) comprise five subtypes: The L‑type; R‑type; N‑
type; P/Q‑type; and T‑type, which are encoded by α1 subunit genes. Calcium ion channels …

Introduction: Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in
genes related to cell membrane and synaptic function. Despite the exponential increase in …

Background Genotype–phenotype correlations of the CACNA1A-related
neurodevelopmental disorders such as global developmental delay (GDD)/intellectual …

The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases,
characterized by attacks of cerebellar dysfunction of variable duration and frequency, often …

Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all
caused by an expanded CAG trinucleotide repeat located in the coding region of each …

In the last two decades, migraine research has greatly advanced our current knowledge of
the genetic contributions and the pathophysiology of this common and debilitating disorder …

Abstract Episodic Ataxia type 2 (EA 2) is a rare autosomal dominantly inherited neurological
disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia …

Autosomal‐dominant episodic ataxias (EA s) represent a clinically and genetically
heterogeneous group of disorders characterized by recurrent episodes of cerebellar ataxia …

Several dominant mutations of CACNA1A gene were associated with at least three different
allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and …