Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …

Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks
of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the …

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 …

Summary Episodic ataxia type 2 (EA 2) is a rare neurological disorder of autosomal
dominant inheritance resulting from dysfunction of a voltage-gated calcium channel. It …

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 …

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized
by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have …

Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar
dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders …

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

Hereditary ataxias, especially when presenting sporadically in adulthood, present a
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …

Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized
by transient recurrent incoordination and truncal instability, often triggered by physical …