Recombinant Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A (CACNA1A), partial

1. We performed a mutational screening of the CACNA1A gene, including the promoter and 3'UTR regions, in 49 unrelated patients diagnosed with episodic ataxia. Our data suggest that most of these variants are disease-causing, although functional studies are required. PMID: 28566750
2. Sequencing analysis showed 3 point mutations, two novel variants and one already described in literature. Moreover, MLPA analysis showed 3 deletions in 9 sporadic hemiplegic migraine (18%), in 3 patients with non-hemiplegic migraine (4.1%) and in 3 patients affected by episodic ataxia (20%). Two sporadic patients showed a deletion in exons 41-43, while (5) showed a deletion in the terminal part of CACNA1A. PMID: 30167989
3. The Episodic ataxias caused by heterozygous mutations in CACNA1A. PMID: 29891059
4. Expression levels of CACNA1A encoding alpha1A subunit were similar between spinocerebellar ataxia type 6 and control neurons, and no differences were found in the subcellular distribution of CaV2.1 channel protein PMID: 28946818
5. 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. PMID: 28007337
6. 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. PMID: 26961263
7. this report provides insight into the mutations in the CACNA1A gene and resulting pheno types and pres ents a novel inheritance pattern for this disorder. PMID: 27250579
8. The authors have identified a novel missense heterozygote variant of CACNA1A in a three generation Slovak family with recurrent episodes of ataxia. PMID: 28096552
9. the novel R1673P allele of CACNA1A produces neurodegenerative phenotypes in flies and human, likely due to a toxic gain of function PMID: 28742085
10. 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. PMID: 28169007
11. CACNA1A and SPG7 are major ataxia genes. PMID: 28444220
12. To assess the gene dosage effect in SCA6 homozygotes, study determined the effect of CACNA1A CAG repeat 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 PMID: 28131213
13. 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. PMID: 28377503
14. Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies PMID: 27476654
15. Microdomain-targeted remodeling of L-type Calcium Channels contributes to ventricular arrhyrhmias in heart failure. PMID: 27572487
16. Eye movement disorders are an early manifestation of CACNA1A mutations phenotype in children. PMID: 26814174
17. The presence of SCN1A mutations and absence of mutations in ATP1A2 or CACNA1A suggest that the Polish patients represent FHM type 3. PMID: 26747084
18. South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes PMID: 25869926
19. Cav2.1 dysfunction in episodic ataxia type 2 has unexpected effects on axon excitability. PMID: 26912519
20. CACNA1A might play a role in the etiology of autism as demonstrated in the Chinese Han population PMID: 26566276
21. Expression of DnaJ-1 potently suppresses alpha1ACT-dependent degeneration , concomitant with decreased aggregation of the pathogenic protein. Mutating the nuclear importer karyopherin a3 also leads to reduced toxicity from pathogenic CACNA1A PMID: 25954029
22. This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of CaV2.1 channels function PMID: 25735478
23. Study revealed no association between the 15 tagSNPs of CACNA1A, 1C, and 1H and antiepileptic drug efficacy in the Chinese Han epileptic population; the TAGAA haplotype of CACNA1A may be a risk factor for drug resistance PMID: 26216687
24. This study showed that Genetic analyses identified a nonsense mutation in exon 23 which has been registered in dbSNP as a pathogenic allele. PMID: 25784583
25. the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1. PMID: 26507659
26. A novel nonsense mutation of the CACNA1A gene was identified in all affected family members and is most likely the disease causing molecular defect PMID: 25468264
27. The roles of the calcium-sensing receptor (CaSR) and L-type voltage-dependent calcium channel (L-VDCC) in the proliferation and osteogenic differentiation of a calcium-exposed periodontal ligament stem/progenitor cells, were investigated . PMID: 24842051
28. The results of this study suggest that the polyQ carrying the CT fragment of the P/Q-type channel is sufficient to cause SCA6 pathogenesis in mice. PMID: 26063920
29. A genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to exfoliation syndrome. PMID: 25706626
30. Neurophysiological findings confirmed possible cerebral cortex and white matter involvement regardless of the clinical symptoms displayed in a family with a novel CACNA1A mutation PMID: 20682717
31. Findings suggest that the unaltered inhibitory transmission at multipolar interneuron autapses is due to the expression of specific CaV2.1 channels whose gating is barely affected by the familial hemiplegic migraine type 1 mutation PMID: 24907493
32. report here two new benign paroxysmal torticollis of infancy patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys PMID: 24445160
33. In this review and case report, a novel CACNA1A point mutation was linked to episodic ataxia type 2. PMID: 24658662
34. This study preseent mouse model of episodic ataxia type 2 in missense mutation of CACNA1A. PMID: 25109669
35. In three unrelated families with dominant cerebellar ataxia, symptoms cosegregated with CACNA1A missense mutations of evolutionary highly conserved amino acids. PMID: 24486772
36. Novel mutations in CACNA1A genes are associated with episodic ataxia type 2. PMID: 24275721
37. We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame variant in a Swiss family presenting as the episodic ataxia type 2 phenotype associated with reduced saccade velocity. PMID: 24046065
38. Genetic analysis identified a splice site mutation (p.Val1465Glyfs13X)and normal trinucleotide repeats in CACNA1A in all clinically affected and one unaffected members of a Korean family with EA2 with genetic anticipation PMID: 23344743
39. Cav2.1 expression is inhibited by prion protein expression which competes with glycosylphosphatidylinosital-anchoring pathways. PMID: 24329154
40. a genetic variant in the synprint site of the CaV2.1 channel which is characterized by a gain-of-function and associated with both hemiplegic migraine and migraine with aura in patients. PMID: 24108129
41. These results suggest that the extent of G-protein-mediated inhibition is significantly reduced in the K1336E mutant CaV2.1 Ca(2+) channels PMID: 23430985
42. Mice injected with P/Q type voltage-gated calcium channel antibodies from patients with paraneoplastic cerebellar degeneration develop marked reversible ataxia compared to controls. PMID: 23726906
43. CACNA1A coordinates gene expression using a bicistronic mRNA bearing a cryptic internal ribosomal entry site (IRES). The first cistron encodes the well-characterized alpha1A subunit. The second expresses a transcription factor, alpha1ACT, which coordinates expression of a program of genes involved in neural and Purkinje cell development. PMID: 23827678
44. Cytoplasmic location of alpha1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death. PMID: 23505410
45. This is the first report of Type 2 episodic ataxia in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2. PMID: 23441182
46. We conclude that CACNA1A variants in some persons with Dravet syndrome may modify the epileptic phenotypes. PMID: 23103419
47. analysis of Ca2+-independent activation of Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain of CaV2.1 calcium channels PMID: 23255606
48. This observation suggests that paroxysmal sensoriphobia and digestive signs can occur together in bouts in neurological conditions other than migraine, and in the absence of head pain. PMID: 22942164
49. The clinical spectrum of missense mutation in CACNA1A-related disorders is much broader than in strictly familial hemiplegic migraine. PMID: 23407676
50. The W1684R and V1696I mutations affect the apparent dissociation and reassociation rates of the Gbetagamma dimer from the channel complex, suggesting that the G protein-Ca(2+) channel affinity may be altered by the CACNA1A gene mutations. PMID: 22549042

Show More

Hide All

HGNC: 1388

OMIM: 108500

KEGG: hsa:773

STRING: 9606.ENSP00000353362

UniGene: Hs.501632