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

Human mutations in the CACNA1A gene that encodes the pore-forming α 1A subunit of the
voltage-gated Ca V 2.1 (P/Q-type) Ca 2+ channel cause multiple neurological disorders …

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

Abstract P/Q-type Ca2+ currents mediated by CaV2. 1 channels are essential for active
neurotransmitter release at neuromuscular junctions and many central synapses. Mutations …

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and
may complicate the course of channelopathies related to Familial Hemiplegic Migraine …

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

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by
biallelic mutations in the LRBA gene (OMIM# 614700). It was initially characterized as …

Background Mutations in the CACNA1A gene, encoding the pore-forming CaV2. 1 (P/Q-
type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar …

Background CACNA1A-related disorders present with persistent progressive and non-
progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic …

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 …