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Aliases for CACNA1A Gene

Aliases for CACNA1A Gene

  • Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit 2 3
  • CACNL1A4 3 4 6
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.1 3 4
  • Brain Calcium Channel I 3 4
  • SCA6 3 6
  • BI 3 4
  • Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 4
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Brain Calcium Channel 1 3
  • CAV2.1 3
  • CACH4 4
  • CACN3 4
  • APCA 3
  • HPCA 3
  • MHP1 3
  • EA2 3
  • FHM 3
  • MHP 3

External Ids for CACNA1A Gene

Previous HGNC Symbols for CACNA1A Gene

  • CACNL1A4
  • SCA6
  • MHP1
  • MHP

Previous GeneCards Identifiers for CACNA1A Gene

  • GC19M013650
  • GC19M013162
  • GC19M013179
  • GC19M013317
  • GC19M012889

Summaries for CACNA1A Gene

Entrez Gene Summary for CACNA1A Gene

  • 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. [provided by RefSeq, Mar 2010]

GeneCards Summary for CACNA1A Gene

CACNA1A (Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit) is a Protein Coding gene. Diseases associated with CACNA1A include migraine, familial hemiplegic, 1 and episodic ataxia, type 2. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is NALCN.

UniProtKB/Swiss-Prot for CACNA1A Gene

  • Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA)

Tocris Summary for CACNA1A Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families. Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1A Gene

Genomics for CACNA1A Gene

Regulatory Elements for CACNA1A Gene

Transcription factor binding sites by QIAGEN in the CACNA1A gene promoter:

Genomic Location for CACNA1A Gene

Start:
13,206,442 bp from pter
End:
13,623,990 bp from pter
Size:
417,549 bases
Orientation:
Minus strand

Genomic View for CACNA1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1A Gene

Proteins for CACNA1A Gene

  • Protein details for CACNA1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00555-CAC1A_HUMAN
    Recommended name:
    Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Protein Accession:
    O00555
    Secondary Accessions:
    • J3KP41
    • P78510
    • P78511
    • Q16290
    • Q92690
    • Q99790
    • Q99791
    • Q99792
    • Q99793
    • Q9NS88
    • Q9UDC4

    Protein attributes for CACNA1A Gene

    Size:
    2505 amino acids
    Molecular mass:
    282365 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes

    Three dimensional structures from OCA and Proteopedia for CACNA1A Gene

    Alternative splice isoforms for CACNA1A Gene

neXtProt entry for CACNA1A Gene

Proteomics data for CACNA1A Gene at MOPED

Post-translational modifications for CACNA1A Gene

No data available for DME Specific Peptides for CACNA1A Gene

Domains for CACNA1A Gene

Gene Families for CACNA1A Gene

HGNC:
  • CACN :Calcium channel subunits
  • CACN1 :Voltage-gated ion channels / Calcium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O00555

UniProtKB/Swiss-Prot:

CAC1A_HUMAN :
  • O00555
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily.
genes like me logo Genes that share domains with CACNA1A: view

Function for CACNA1A Gene

Molecular function for CACNA1A Gene

GENATLAS Biochemistry: calcium voltage-gated channel (VDCC),P/Q type,alpha 1A subunit,isoform 4,abundantly expressed in neuronal tissue,containing a GCG repeat in 5utr (exon 47) responsible of cytoplasmic aggregation in the Purkinje cell,ortholog of the mouse gene responsible for the phenotypes,tottering (tg) and leaner (tgla)
UniProtKB/Swiss-Prot Function: Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA)

Gene Ontology (GO) - Molecular Function for CACNA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005244 voltage-gated ion channel activity --
GO:0005245 voltage-gated calcium channel activity ISS --
GO:0005515 protein binding IPI 11865310
GO:0008331 high voltage-gated calcium channel activity IBA --
genes like me logo Genes that share ontologies with CACNA1A: view
genes like me logo Genes that share phenotypes with CACNA1A: view

Animal Models for CACNA1A Gene

MGI Knock Outs for CACNA1A:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNA1A Gene

Localization for CACNA1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1A Gene COMPARTMENTS Subcellular localization image for CACNA1A gene
Compartment Confidence
nucleus 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16595610
GO:0005737 cytoplasm IDA 16595610
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with CACNA1A: view

Pathways for CACNA1A Gene

genes like me logo Genes that share pathways with CACNA1A: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CACNA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport --
GO:0006816 calcium ion transport --
genes like me logo Genes that share ontologies with CACNA1A: view

Compounds for CACNA1A Gene

(5) Tocris Compounds for CACNA1A Gene

Compound Action Cas Number
Isradipine Ca2+ channel blocker (L-type) [75695-93-1]
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) [116666-63-8]
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) [106375-28-4]
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels [148553-50-8]
SNX 482 Potent and selective CaV2.3 blocker (R-type) [203460-30-4]

(2) HMDB Compounds for CACNA1A Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Loperamide
  • Apo-Loperamide
53179-11-6

(4) Drugbank Compounds for CACNA1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Bepridil
64706-54-3 target inhibitor
Loperamide
53179-11-6 target inhibitor
Pregabalin
  • CI-1008
148553-50-8 target inhibitor
Verapamil
  • Verapamil [Usan:Ban:Inn]
52-53-9 target inhibitor

(3) IUPHAR Ligand for CACNA1A Gene

Ligand Type Action Affinity Pubmed IDs
omega-agatoxin IVA Channel blocker None 7
omega-conotoxin MVIIC Channel blocker None
omega-agatoxin IVB Channel blocker None

(12) Novoseek inferred chemical compound relationships for CACNA1A Gene

Compound -log(P) Hits PubMed IDs
acetazolamide 76.2 7
calcium 67.6 118
glutamine 51.9 13
potassium 18.1 2
4-aminopyridine 5.55 1
genes like me logo Genes that share compounds with CACNA1A: view

Transcripts for CACNA1A Gene

Unigene Clusters for CACNA1A Gene

Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CACNA1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1A Gene

No ASD Table

Relevant External Links for CACNA1A Gene

GeneLoc Exon Structure for
CACNA1A
ECgene alternative splicing isoforms for
CACNA1A

Expression for CACNA1A Gene

mRNA expression in normal human tissues for CACNA1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (16.8) and Brain - Cerebellum (16.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNA1A Gene

SOURCE GeneReport for Unigene cluster for CACNA1A Gene Hs.501632

mRNA Expression by UniProt/SwissProt for CACNA1A Gene

O00555-CAC1A_HUMAN
Tissue specificity: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.
genes like me logo Genes that share expressions with CACNA1A: view

In Situ Assay Products

Orthologs for CACNA1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CACNA1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1A 35
  • 98.85 (n)
  • 98.8 (a)
CACNA1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1A 35
  • 92.01 (n)
  • 95.91 (a)
CACNA1A 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1A 35
  • 92.98 (n)
  • 96.89 (a)
CACNA1A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1a 35
  • 86.62 (n)
  • 92.22 (a)
Cacna1a 16
Cacna1a 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cacna1a 35
  • 86.48 (n)
  • 91.84 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1a 35
  • 71.39 (n)
  • 78.19 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1aa 36
  • 78 (a)
OneToMany
cacna1ab 35
  • 69.74 (n)
  • 74.62 (a)
cacna1ab 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cac 37
  • 58 (a)
rice
(Oryza sativa)
Liliopsida Os.46813 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for CACNA1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNA1A Gene

ENSEMBL:
Gene Tree for CACNA1A (if available)
TreeFam:
Gene Tree for CACNA1A (if available)

Paralogs for CACNA1A Gene

Paralogs for CACNA1A Gene

genes like me logo Genes that share paralogs with CACNA1A: view

Variants for CACNA1A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1A Gene

O00555-CAC1A_HUMAN
The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family

Sequence variations from dbSNP and Humsavar for CACNA1A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1742 -- 13,350,633(-) TTGGA(A/T)AAGTC intron-variant
rs15998 -- 13,506,292(-) GCATC(A/G)GCGGC utr-variant-5-prime
rs15999 - 13,506,163(-) AGCCG(C/T)CGGGG reference, missense
rs16003 -- 13,505,879(-) CCTCC(A/G)CCTCC intron-variant
rs16004 -- 13,371,770(-) TTGGC(G/T)ACAGT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CACNA1A Gene

Variant ID Type Subtype PubMed ID
nsv525967 CNV Gain 19592680
esv1689364 CNV Insertion 17803354
nsv138156 CNV Insertion 16902084
nsv138168 CNV Loss 16902084
nsv510468 CNV Loss 20534489
nsv819328 CNV Loss 19587683
nsv833755 CNV Gain 17160897
nsv911095 CNV Loss 21882294
esv34036 CNV Loss 18971310
nsv911096 CNV Loss 21882294
nsv523990 CNV Loss 19592680
nsv520548 CNV Loss 19592680
esv2718201 CNV Deletion 23290073
esv4302 CNV Deletion 18987735
esv2665817 CNV Deletion 23128226
esv2718202 CNV Deletion 23290073
esv7746 CNV Gain 19470904
esv271414 CNV Insertion 20981092

Relevant External Links for CACNA1A Gene

HapMap Linkage Disequilibrium report
CACNA1A
Human Gene Mutation Database (HGMD)
CACNA1A
Locus Specific Mutation Databases (LSDB)
CACNA1A

Disorders for CACNA1A Gene

(3) OMIM Diseases for CACNA1A Gene (601011)

UniProtKB/Swiss-Prot

CAC1A_HUMAN
  • Spinocerebellar ataxia 6 (SCA6) [MIM:183086]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. {ECO:0000269 PubMed:16325861, ECO:0000269 PubMed:20682717, ECO:0000269 PubMed:8988170, ECO:0000269 PubMed:9345107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:10408532, ECO:0000269 PubMed:11409427, ECO:0000269 PubMed:11439943, ECO:0000269 PubMed:15032980, ECO:0000269 PubMed:18400034, ECO:0000269 PubMed:8898206}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Episodic ataxia 2 (EA2) [MIM:108500]: An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. {ECO:0000269 PubMed:10987655, ECO:0000269 PubMed:11176968, ECO:0000269 PubMed:11723274, ECO:0000269 PubMed:12420090, ECO:0000269 PubMed:14718690, ECO:0000269 PubMed:15173248, ECO:0000269 PubMed:15293273, ECO:0000269 PubMed:18602318, ECO:0000269 PubMed:19232643, ECO:0000269 PubMed:20129625, ECO:0000269 PubMed:21696515, ECO:0000269 PubMed:8898206, ECO:0000269 PubMed:9302278}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) University of Copenhagen DISEASES for CACNA1A Gene

(39) Novoseek inferred disease relationships for CACNA1A Gene

Disease -log(P) Hits PubMed IDs
hemiplegic migraine familial 98.6 81
episodic ataxia, type 2 98.5 51
spinocerebellar ataxia type 6 98.1 50
migraine hemiplegic 96.7 30
migraine 87.2 66

Relevant External Links for CACNA1A

GeneTests
CACNA1A
GeneReviews
CACNA1A
Genetic Association Database (GAD)
CACNA1A
Human Genome Epidemiology (HuGE) Navigator
CACNA1A
genes like me logo Genes that share disorders with CACNA1A: view

Publications for CACNA1A Gene

  1. The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. (PMID: 19429006) D'Onofrio M. … Buzzi M.G. (Neurosci. Lett. 2009) 3 4 23 48
  2. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (PMID: 20129625) Mantuano E. … Mariotti C. (J. Neurol. Sci. 2010) 3 4 23 48
  3. CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology. (PMID: 19527141) Gerola S. … Carrera P. (Clin. Chem. Lab. Med. 2009) 3 23 48
  4. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 23 48
  5. CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. (PMID: 18400034) Stam A.H. … Terwindt G.M. (Clin. Genet. 2008) 3 4 23

Products for CACNA1A Gene

Sources for CACNA1A Gene

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