2024年12月24日 · CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G) is a Protein Coding gene. Diseases associated with CACNA1G include Spinocerebellar Ataxia 42 and Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits. Among its related pathways are TCR Signaling (Qiagen) and DREAM Repression and Dynorphin …

The CACNA1G gene encodes the calcium voltage-gated channel subunit alpha1 G, also known as subunit Cav3.1, primarily found in the postsynaptic regions of the cerebellum, hippocampus, thalamus, and heart.

Calcium channel, voltage-dependent, T type, alpha 1G subunit, also known as CACNA1G or Ca v 3.1 is a protein which in humans is encoded by the CACNA1G gene. [5] [6] [7] It is one of the primary targets in the pharmacology of absence seizure.

2018年8月13日 · The CACNA1G gene encodes the low-voltage-activated Ca(v)3.1 T-type calcium channel. CACNA1G is highly expressed in Purkinje neurons and deep cerebellar nuclei (summary by Chemin et al., 2018).

The results of this study provide support for Cacna1g as a genetic modifier in a mouse model of Dravet syndrome and suggest that Cav3.1 may be a potential molecular target for therapeutic intervention in patients; CACNA1G variant is associated with differential antiepileptic drug response in childhood absence epilepsy.

2024年5月5日 · This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, …

SCA42 is a rare non-expansion SCA caused by mutations in CACNA1G on chromosome 17q21, encoding the Ca (V)3.1, a low-threshold voltage-gated T-type calcium channel. The novel variant we identified is potentially involved in channel activity.

2025年1月5日 · Long non-coding RNA CACNA1G-AS1 promotes cell migration, invasion and epithelial-mesenchymal transition by HNRNPA2B1 in non-small cell lung cancer. A T-type channel-calmodulin complex triggers αCaMKII activation.

Our findings confirm the specific association between a narrow spectrum of missense mutations in CACNA1G and a novel syndrome with infantile-onset cerebellar ataxiaand provide a dysmorphologic delineation of this novel neurodevelopmental trait.

2024年12月18日 · Variants in CACNA1G, which encodes the α1G subunit of the thalamus-enriched T-type calcium channel, are associated with absence seizures, intellectual disability, and schizophrenia, but the cellular and circuit consequences of these genetic variants in humans remain unknown.