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 …

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

Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …

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

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

The CACNA1A gene encodes the pore-forming α1 subunit of voltage-gated P/Q type Ca 2+
channels (Ca v 2.1). Mutations in this gene, among others, have been described in patients …

Background Epilepsy is a neurological disorder characterized by the potential to induce
seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A …

Objectives Defects in DNA damage responses or repair mechanisms cause numerous rare
inherited diseases, referred to as “DNA-repair defects” or “DNA damage deficiency” …

Background: The voltage-dependent calcium channel α1 subunit (CACNA1A) gene plays a
major role in neuronal communication. Mutation in this gene results in altered Ca 2+ ion …

The CACNA1A gene encodes the alpha-1A subunit of P/Q type voltage-gated calcium
channel Cav2. 1, which is associated with a broad clinical spectrum and variable …