Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of
ion channels located in the membranes of all cells and many cellular organelles. These …

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 …

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2),
with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia …

Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …

Objective Developmental epileptic encephalopathies (DEE s) are genetically
heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive …

CACNA1A pathogenic mutations are involved in various neurological phenotypes including
episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine …

Epilepsy is a common disease of the nervous system characterized by transient brain
dysfunction caused by an abnormal electrical discharge from the brain neurons. The …

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 …

Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic
migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been …