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The efficient activation of CaV2.1 channels during action potentials may contribute to the highly reliable transmission at zebrafish neuromuscular junctions.
De novo missense mutations of CACNA1A were found in four patients (4/48, approximately 8.3%). Three of them developed migraine before or after the onset of ataxia. Seizures were present in half of the cases.
From a cohort study and literature review, authors conclude that CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.
this report provides insight into the mutations in the CACNA1A gene and resulting pheno types and pres (zeige SLC26A5 Proteine) ents a novel inheritance pattern for this disorder.
The authors have identified a novel missense heterozygote variant of CACNA1A in a three generation Slovak family with recurrent episodes of ataxia.
the novel R1673P allele of CACNA1A produces neurodegenerative phenotypes in flies and human, likely due to a toxic gain of function
Whole exome sequencing technique confirmed, for the first time in the Polish population, a heterozygous T666M mutation (c.1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members. CONCLUSION: The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
CACNA1A and SPG7 are major ataxia genes.
To assess the gene dosage effect in SCA6 homozygotes, study determined the effect of CACNA1A CAG repeat (zeige CELF3 Proteine) length on the age-of-onset in heterozygotes, found that the total number of CAG repeats in both the normal and expanded alleles was inversely correlated with the age-of-onset in SCA6
Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47.
Mutations in SLC1A2 (zeige SLC1A2 Proteine) and CACNA1A Are Important Causes of Epileptic Encephalopathies
These results demonstrate that a functional deficit in P/Q-type channels does not alter propulsive colonic motility. Myenteric neuron L-type Ca(2 (zeige CA2 Proteine)+) channel function increases to compensate for loss of functional P/Q-type Ca(2 (zeige CA2 Proteine)+) channels.
Cacna1a mutation plays a significant role in protein expression patterns in cerebellum of mutant mice.
Our findings that BAG3 (zeige BAG3 Proteine) is localized at the sarcolemma and t-tubules while modulating myocyte contraction and action potential duration through specific interaction with the beta1-adrenergic receptor and L-type Ca(2 (zeige CA2 Proteine)+) channel provide novel insight into the role of BAG3 (zeige BAG3 Proteine) in cardiomyopathies and increased arrhythmia risks in heart failure.
Findings demonstrate that the mutant Cav2.1 channel exerts a protective effect against cryogenic brain injury in rolling Nagoya mice
results indicate that regulation of CaV2.1 channels by Ca(2 (zeige CA2 Proteine)+) sensor proteins is essential for normal synaptic plasticity at the neuromuscular junction and for muscle strength, endurance, and motor coordination in mice in vivo
regulation of CaV2.1 channels by calcium sensor proteins is required for normal short-term plasticity
Thus, GHSR1a differentially inhibits CaV2 (zeige CAV2 Proteine) channels by Gi/o or Gq protein pathways depending on its mode of activation.
Genetic ablation of Cacna1a in layer VI neurons produced Absence Epilepsy.
CACNA1A regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
new information on the hypothalamic expression of alpha1A and alpha1D subunits during development in a mammal with a long gestation period and a large and convoluted brain.
cloned the full-length alpha1A subunit
Gem (zeige GEM Proteine) contains two candidate inhibitory sites, each capable of producing full inhibition of P/Q-type Ca(2 (zeige CA2 Proteine)+) channels.
describe a CACNA1A mutation (A454T) that disturbs the functional interaction between SNAREs and the poreforming alpha1A subunit, resulting in mutant P/Q channels that are less efficiently coupled to secretion.
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
, voltage-dependent calcium ion channel alpha subunit
, brain calcium channel 1
, brain calcium channel I
, brain class A
, calcium channel alpha 1A
, calcium channel, L type, alpha-1 polypeptide
, calcium channel, voltage-dependent, alpha 1A subunit
, voltage-dependent P/Q-type calcium channel subunit alpha-1A
, voltage-gated calcium channel subunit alpha Cav2.1
, P/Q-type calcium channel alpha1A subunit
, calcium channel, P/Q type, alpha 1A
, calcium channel, alpha 1A subunit
, voltage-gated calcium channel alpha 1A subunit
, calcium channel BI-1
, calcium channel BI-2