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

T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are
involved in a wide variety of physiological functions, especially in nervous systems. Their …

This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

The identification of rare disease-causing variants in humans by large-scale next-generation
sequencing (NGS) studies has also provided us with new insights into the …

T-type calcium channels (Cav3. 1 to Cav3. 3) regulate low-threshold calcium spikes, burst
firing and rhythmic oscillations of neurons and are involved in sensory processing, sleep …

Background Autism spectrum disorder (ASD) covers a group of neurodevelopmental
disorders with complex genetic background. Several genetic mutations, epigenetic …

Voltage-gated calcium channels (VGCCs) are widely expressed in the brain, heart and
vessels, smooth and skeletal muscle, as well as in endocrine cells. VGCCs mediate gene …

Abstract Cav1. 2 L-type calcium channels play key roles in long-term synaptic plasticity,
sensory transduction, muscle contraction, and hormone release. De novo mutations in the …

Abstract Cav1. 4 L-type Ca 2+ channels are predominantly expressed in retinal neurons,
particularly at the photoreceptor terminals where they mediate sustained Ca 2+ entry …