Gene name:
    CACNA1A (CACH4;CACN3;CACNL1A4) ;
    
 
    Protein name:
    Voltage-dependent P/Q-type calcium channel subunit alpha-1A ;
    
    Alternative:
    
    Calcium channel, L type, alpha-1 polypeptide isoform 4 ;Brain calcium channel I (BI) ;Voltage-gated calcium channel subunit alpha Cav2.1 ;
    
    
 
    Organism:
        
        
        
        
        
        
    
        Human  (Homo sapiens).  
    
 
General Annotation
    Sub Unit:
    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.
    
 
    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).
    
 
    
        
        Subcellular Location:
        
    
     
     
      Membrane  
      Multi-pass membrane protein 
     
  
    
 
    
    Protein Attributes:
    
    50:
    MARFGDEMPA |  RYGGGGSGAA |  AGVVVGSGGG |  RGAGGSRQGG |  QPGAQRMYKQ |  
    
 
    100:
    SMAQRARTMA |  LYNPIPVRQN |  CLTVNRSLFL |  FSEDNVVRKY |  AKKITEWPPF |  
    
 
    150:
    EYMILATIIA |  NCIVLALEQH |  LPDDDKTPMS |  ERLDDTEPYF |  IGIFCFEAGI |  
    
 
    200:
    KIIALGFAFH |  KGSYLRNGWN |  VMDFVVVLTG |  ILATVGTEFD |  LRTLRAVRVL |  
    
 
    250:
    RPLKLVSGIP |  SLQVVLKSIM |  KAMIPLLQIG |  LLLFFAILIF |  AIIGLEFYMG |  
    
 
    300:
    KFHTTCFEEG |  TDDIQGESPA |  PCGTEEPART |  CPNGTKCQPY |  WEGPNNGITQ |  
    
 
    350:
    FDNILFAVLT |  VFQCITMEGW |  TDLLYNSNDA |  SGNTWNWLYF |  IPLIIIGSFF |  
    
 
    400:
    MLNLVLGVLS |  GEFAKERERV |  ENRRAFLKLR |  RQQQIERELN |  GYMEWISKAE |  
    
 
    450:
    EVILAEDETD |  GEQRHPFDGA |  LRRTTIKKSK |  TDLLNPEEAE |  DQLADIASVG |  
    
 
    500:
    SPFARASIKS |  AKLENSTFFH |  KKERRMRFYI |  RRMVKTQAFY |  WTVLSLVALN |  
    
 
    550:
    TLCVAIVHYN |  QPEWLSDFLY |  YAEFIFLGLF |  MSEMFIKMYG |  LGTRPYFHSS |  
    
 
    600:
    FNCFDCGVII |  GSIFEVIWAV |  IKPGTSFGIS |  VLRALRLLRI |  FKVTKYWASL |  
    
 
    650:
    RNLVVSLLNS |  MKSIISLLFL |  LFLFIVVFAL |  LGMQLFGGQF |  NFDEGTPPTN |  
    
 
    700:
    FDTFPAAIMT |  VFQILTGEDW |  NEVMYDGIKS |  QGGVQGGMVF |  SIYFIVLTLF |  
    
 
    750:
    GNYTLLNVFL |  AIAVDNLANA |  QELTKDEQEE |  EEAANQKLAL |  QKAKEVAEVS |  
    
 
    800:
    PLSAANMSIA |  VKEQQKNQKP |  AKSVWEQRTS |  EMRKQNLLAS |  REALYNEMDP |  
    
 
    850:
    DERWKAAYTR |  HLRPDMKTHL |  DRPLVVDPQE |  NRNNNTNKSR |  AAEPTVDQRL |  
    
 
    900:
    GQQRAEDFLR |  KQARYHDRAR |  DPSGSAGLDA |  RRPWAGSQEA |  ELSREGPYGR |  
    
 
    950:
    ESDHHAREGS |  LEQPGFWEGE |  AERGKAGDPH |  RRHVHRQGGS |  RESRSGSPRT |  
    
 
    1000:
    GADGEHRRHR |  AHRRPGEEGP |  EDKAERRARH |  REGSRPARGG |  EGEGEGPDGG |  
    
 
    1050:
    ERRRRHRHGA |  PATYEGDARR |  EDKERRHRRR |  KENQGSGVPV |  SGPNLSTTRP |  
    
 
    1100:
    IQQDLGRQDP |  PLAEDIDNMK |  NNKLATAESA |  APHGSLGHAG |  LPQSPAKMGN |  
    
 
    1150:
    STDPGPMLAI |  PAMATNPQNA |  ASRRTPNNPG |  NPSNPGPPKT |  PENSLIVTNP |  
    
 
    1200:
    SGTQTNSAKT |  ARKPDHTTVD |  IPPACPPPLN |  HTVVQVNKNA |  NPDPLPKKEE |  
    
 
    1250:
    EKKEEEEDDR |  GEDGPKPMPP |  YSSMFILSTT |  NPLRRLCHYI |  LNLRYFEMCI |  
    
 
    1300:
    LMVIAMSSIA |  LAAEDPVQPN |  APRNNVLRYF |  DYVFTGVFTF |  EMVIKMIDLG |  
    
 
    1350:
    LVLHQGAYFR |  DLWNILDFIV |  VSGALVAFAF |  TGNSKGKDIN |  TIKSLRVLRV |  
    
 
    1400:
    LRPLKTIKRL |  PKLKAVFDCV |  VNSLKNVFNI |  LIVYMLFMFI |  FAVVAVQLFK |  
    
 
    1450:
    GKFFHCTDES |  KEFEKDCRGK |  YLLYEKNEVK |  ARDREWKKYE |  FHYDNVLWAL |  
    
 
    1500:
    LTLFTVSTGE |  GWPQVLKHSV |  DATFENQGPS |  PGYRMEMSIF |  YVVYFVVFPF |  
    
 
    1550:
    FFVNIFVALI |  IITFQEQGDK |  MMEEYSLEKN |  ERACIDFAIS |  AKPLTRHMPQ |  
    
 
    1600:
    NKQSFQYRMW |  QFVVSPPFEY |  TIMAMIALNT |  IVLMMKFYGA |  SVAYENALRV |  
    
 
    1650:
    FNIVFTSLFS |  LECVLKVMAF |  GILNYFRDAW |  NIFDFVTVLG |  SITDILVTEF |  
    
 
    1700:
    GNNFINLSFL |  RLFRAARLIK |  LLRQGYTIRI |  LLWTFVQSFK |  ALPYVCLLIA |  
    
 
    1750:
    MLFFIYAIIG |  MQVFGNIGID |  VEDEDSDEDE |  FQITEHNNFR |  TFFQALMLLF |  
    
 
    1800:
    RSATGEAWHN |  IMLSCLSGKP |  CDKNSGILTR |  ECGNEFAYFY |  FVSFIFLCSF |  
    
 
    1850:
    LMLNLFVAVI |  MDNFEYLTRD |  SSILGPHHLD |  EYVRVWAEYD |  PAAWGRMPYL |  
    
 
    1900:
    DMYQMLRHMS |  PPLGLGKKCP |  ARVAYKRLLR |  MDLPVADDNT |  VHFNSTLMAL |  
    
 
    1950:
    IRTALDIKIA |  KGGADKQQMD |  AELRKEMMAI |  WPNLSQKTLD |  LLVTPHKSTD |  
    
 
    2000:
    LTVGKIYAAM |  MIMEYYRQSK |  AKKLQAMREE |  QDRTPLMFQR |  MEPPSPTQEG |  
    
 
    2050:
    GPGQNALPST |  QLDPGGALMA |  HESGLKESPS |  WVTQRAQEMF |  QKTGTWSPEQ |  
    
 
    2100:
    GPPTDMPNSQ |  PNSQSVEMRE |  MGRDGYSDSE |  HYLPMEGQGR |  AASMPRLPAE |  
    
 
    2150:
    NQRRRGRPRG |  NNLSTISDTS |  PMKRSASVLG |  PKARRLDDYS |  LERVPPEENQ |  
    
 
    2200:
    RHHQRRRDRS |  HRASERSLGR |  YTDVDTGLGT |  DLSMTTQSGD |  LPSKERDQER |  
    
 
    2250:
    GRPKDRKHRQ |  HHHHHHHHHH |  PPPPDKDRYA |  QERPDHGRAR |  ARDQRWSRSP |  
    
 
    2300:
    SEGREHMAHR |  QGSSSVSGSP |  APSTSGTSTP |  RRGRRQLPQT |  PSTPRPHVSY |  
    
 
    2350:
    SPVIRKAGGS |  GPPQQQQQQQ |  QQQQAVARPG |  RAATSGPRRY |  PGPTAEPLAG |  
    
 
    2400:
    DRPPTGGHSS |  GRSPRMERRV |  PGPARSESPR |  ACRHGGARWP |  ASGPHVSEGP |  
    
 
    2450:
    PGPRHHGYYR |  GSDYDEADGP |  GSGGGEEAMA |  GAYDAPPPVR |  HASSGATGRS |  
    
 
    2500:
    PRTPRASGPA |  CASPSRHGRR |  LPNGYYPAHG |  LARPRGPGSR |  KGLHEPYSES |  
    
 
      Vaild Sequence:
    
 
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        ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
   
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
    
        Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
        
     
    
    
    
    
    
    
 
 
 
 
 
 
 
 
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    Precision
    
    
    
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    Recovery
    
    
    
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    Linearity
    
    
    
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    References
    
    
        
            
        
            
                1.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2) 
                    
                    
                    tissue :
                    
Neuron .  
             
         
            
        
            
                2.
                
                    
                        
                            "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4." 
                        
                        
                            Ophoff R.A. 
                        ,
                            
Terwindt G.M. 
                        ,
                            
Vergouwe M.N. 
                        ,
                            
van Eijk R. 
                        ,
                            
Oefner P.J. 
                        ,
                            
Hoffman S.M.G. 
                        ,
                            
Lamerdin J.E. 
                        ,
                            
Mohrenweiser H.W. 
                        ,
                            
Bulman D.E. 
                        ,
                            
Ferrari M. 
                        ,
                            
Haan J. 
                        ,
                            
Lindhout D. 
                        ,
                            
van Ommen G.-J.B. 
                        ,
                            
Hofker M.H. 
                        ,
                            
Ferrari M.D. 
                        ,
                            
Frants R.R. 
                        
                        
                        
                        
                            Cell87:543-552(1996)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3);VARIANTS FHM1 GLN-192; MET-666; ALA-714 AND LEU-1810;VARIANT THR-454;INVOLVEMENT IN EA2 
                    
                    
                    tissue :
                    
Cerebellum .  
             
         
            
        
            
                3.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);NUCLEOTIDE SEQUENCE [MRNA] OF 1313-2505 (ISOFORMS 1; 2; 3; 6 AND 7);ALTERNATIVE SPLICING;INVOLVEMENT IN SCA6 
                    
                    
                    tissue :
                    
Brain .  
             
         
            
        
            
                4.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8);VARIANT SER-1105 
                    
                    
                    tissue :
                    
Cerebellum .  
             
         
            
        
            
                5.
                
                    
                        
                            "The DNA sequence and biology of human chromosome 19." 
                        
                        
                            Grimwood J. 
                        ,
                            
Gordon L.A. 
                        ,
                            
Olsen A.S. 
                        ,
                            
Terry A. 
                        ,
                            
Schmutz J. 
                        ,
                            
Lamerdin J.E. 
                        ,
                            
Hellsten U. 
                        ,
                            
Goodstein D. 
                        ,
                            
Couronne O. 
                        ,
                            
Tran-Gyamfi M. 
                        ,
                            
Aerts A. 
                        ,
                            
Altherr M. 
                        ,
                            
Ashworth L. 
                        ,
                            
Bajorek E. 
                        ,
                            
Black S. 
                        ,
                            
Branscomb E. 
                        ,
                            
Caenepeel S. 
                        ,
                            
Carrano A.V. 
                        ,
                        
                        
                            Caoile C. 
                        ,
                            Chan Y.M. 
                        ,
                            Christensen M. 
                        ,
                            Cleland C.A. 
                        ,
                            Copeland A. 
                        ,
                            Dalin E. 
                        ,
                            Dehal P. 
                        ,
                            Denys M. 
                        ,
                            Detter J.C. 
                        ,
                            Escobar J. 
                        ,
                            Flowers D. 
                        ,
                            Fotopulos D. 
                        ,
                            Garcia C. 
                        ,
                            Georgescu A.M. 
                        ,
                            Glavina T. 
                        ,
                            Gomez M. 
                        ,
                            Gonzales E. 
                        ,
                            Groza M. 
                        ,
                            Hammon N. 
                        ,
                            Hawkins T. 
                        ,
                            Haydu L. 
                        ,
                            Ho I. 
                        ,
                            Huang W. 
                        ,
                            Israni S. 
                        ,
                            Jett J. 
                        ,
                            Kadner K. 
                        ,
                            Kimball H. 
                        ,
                            Kobayashi A. 
                        ,
                            Larionov V. 
                        ,
                            Leem S.-H. 
                        ,
                            Lopez F. 
                        ,
                            Lou Y. 
                        ,
                            Lowry S. 
                        ,
                            Malfatti S. 
                        ,
                            Martinez D. 
                        ,
                            McCready P.M. 
                        ,
                            Medina C. 
                        ,
                            Morgan J. 
                        ,
                            Nelson K. 
                        ,
                            Nolan M. 
                        ,
                            Ovcharenko I. 
                        ,
                            Pitluck S. 
                        ,
                            Pollard M. 
                        ,
                            Popkie A.P. 
                        ,
                            Predki P. 
                        ,
                            Quan G. 
                        ,
                            Ramirez L. 
                        ,
                            Rash S. 
                        ,
                            Retterer J. 
                        ,
                            Rodriguez A. 
                        ,
                            Rogers S. 
                        ,
                            Salamov A. 
                        ,
                            Salazar A. 
                        ,
                            She X. 
                        ,
                            Smith D. 
                        ,
                            Slezak T. 
                        ,
                            Solovyev V. 
                        ,
                            Thayer N. 
                        ,
                            Tice H. 
                        ,
                            Tsai M. 
                        ,
                            Ustaszewska A. 
                        ,
                            Vo N. 
                        ,
                            Wagner M. 
                        ,
                            Wheeler J. 
                        ,
                            Wu K. 
                        ,
                            Xie G. 
                        ,
                            Yang J. 
                        ,
                            Dubchak I. 
                        ,
                            Furey T.S. 
                        ,
                            DeJong P. 
                        ,
                            Dickson M. 
                        ,
                            Gordon D. 
                        ,
                            Eichler E.E. 
                        ,
                            Pennacchio L.A. 
                        ,
                            Richardson P. 
                        ,
                            Stubbs L. 
                        ,
                            Rokhsar D.S. 
                        ,
                            Myers R.M. 
                        ,
                            Rubin E.M. 
                        ,
                            Lucas S.M. 
                        
                             
                              more...   
                             
                        
                        
                        
                            Nature428:529-535(2004)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] 
                    
                    
                 
             
         
            
        
            
                6.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] OF 1693-1807 
                    
                    
                    tissue :
                    
Lung carcinoma .  
             
         
            
        
            
                7.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] OF 1702-1822;TISSUE SPECIFICITY 
                    
                    
                    tissue :
                    
Lung carcinoma .  
             
         
            
        
            
                8.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [MRNA] OF 2038-2258 (ISOFORMS 1/2/3/4) 
                    
                    
                    tissue :
                    
Frontal cortex .  
             
         
            
        
            
                9.
                
                    
                    
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                        Cited for INTERACTION WITH CABP1 
                    
                    
                 
             
         
            
        
            
                10.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 1955-1975 
                    
                    
                 
             
         
            
        
            
                11.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT SCA6 ARG-293 
                    
                    
                 
             
         
            
        
            
                12.
                
                    
                        
                            "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p." 
                        
                        
                            Jodice C. 
                        ,
                            
Mantuano E. 
                        ,
                            
Veneziano L. 
                        ,
                            
Trettel F. 
                        ,
                            
Sabbadini G. 
                        ,
                            
Calandriello L. 
                        ,
                            
Francia A. 
                        ,
                            
Spadaro M. 
                        ,
                            
Pierelli F. 
                        ,
                            
Salvi F. 
                        ,
                            
Ophoff R.A. 
                        ,
                            
Frants R.R. 
                        ,
                            
Frontali M. 
                        
                        
                        
                        
                            Hum. Mol. Genet.6:1973-1978(1997)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for POLYMORPHISM;INVOLVEMENT IN SCA6 AND EA2 
                    
                    
                 
             
         
            
        
            
                13.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 HIS-1661 
                    
                    
                 
             
         
            
        
            
                14.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT VAL-993;VARIANT FHM1 LEU-1456 
                    
                    
                 
             
         
            
        
            
                15.
                
                    
                        
                            "Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine." 
                        
                        
                            Kors E.E. 
                        ,
                            
Terwindt G.M. 
                        ,
                            
Vermeulen F.L. 
                        ,
                            
Fitzsimons R.B. 
                        ,
                            
Jardine P.E. 
                        ,
                            
Heywood P. 
                        ,
                            
Love S. 
                        ,
                            
van den Maagdenberg A.M. 
                        ,
                            
Haan J. 
                        ,
                            
Frants R.R. 
                        ,
                            
Ferrari M.D. 
                        
                        
                        
                        
                            Ann. Neurol.49:753-760(2001)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT FHM1 LEU-218 
                    
                    
                 
             
         
            
        
            
                16.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 LYS-1756 
                    
                    
                 
             
         
            
        
            
                17.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS FHM1 LYS-195; GLN-583; MET-666; GLU-715; GLU-1335; CYS-1384; TRP-1667; ARG-1683 AND ILE-1695 
                    
                    
                 
             
         
            
        
            
                18.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 CYS-1403;CHARACTERIZATION OF VARIANT EA2 CYS-1403 
                    
                    
                 
             
         
            
        
            
                19.
                
                    
                        
                            "Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene." 
                        
                        
                            van den Maagdenberg A.M. 
                        ,
                            
Kors E.E. 
                        ,
                            
Brunt E.R. 
                        ,
                            
van Paesschen W. 
                        ,
                            
Pascual J. 
                        ,
                            
Ravine D. 
                        ,
                            
Keeling S. 
                        ,
                            
Vanmolkot K.R. 
                        ,
                            
Vermeulen F.L. 
                        ,
                            
Terwindt G.M. 
                        ,
                            
Haan J. 
                        ,
                            
Frants R.R. 
                        ,
                            
Ferrari M.D. 
                        
                        
                        
                        
                            J. Neurol.249:1515-1519(2002)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 TYR-253 
                    
                    
                 
             
         
            
        
            
                20.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 LEU-1736 
                    
                    
                 
             
         
            
        
            
                21.
                
                    
                    
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                        Cited for VARIANT FHM1 GLN-1346 
                    
                    
                 
             
         
            
        
            
                22.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS EA2 ARG-256; ARG-1482; SER-1490; ILE-1493 AND CYS-2135 
                    
                    
                 
             
         
            
        
            
                23.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS EA2 TYR-287; ARG-293 AND MET-666 
                    
                    
                 
             
         
            
        
            
                24.
                
                    
                        
                            "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4." 
                        
                        
                            von Brevern M. 
                        ,
                            
Ta N. 
                        ,
                            
Shankar A. 
                        ,
                            
Wiste A. 
                        ,
                            
Siegel A. 
                        ,
                            
Radtke A. 
                        ,
                            
Sander T. 
                        ,
                            
Escayg A. 
                        
                        
                        
                        
                            Headache46:1136-1141(2006)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS ASP-918; VAL-993 AND SER-1105 
                    
                    
                 
             
         
            
        
            
                25.
                
                    
                        
                            "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene." 
                        
                        
                            Tonelli A. 
                        ,
                            
D'Angelo M.G. 
                        ,
                            
Salati R. 
                        ,
                            
Villa L. 
                        ,
                            
Germinasi C. 
                        ,
                            
Frattini T. 
                        ,
                            
Meola G. 
                        ,
                            
Turconi A.C. 
                        ,
                            
Bresolin N. 
                        ,
                            
Bassi M.T. 
                        
                        
                        
                        
                            J. Neurol. Sci.241:13-17(2006)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT SCA6 GLN-1664 
                    
                    
                 
             
         
            
        
            
                26.
                
                    
                        
                            "CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine." 
                        
                        
                            Stam A.H. 
                        ,
                            
Vanmolkot K.R. 
                        ,
                            
Kremer H.P. 
                        ,
                            
Gartner J. 
                        ,
                            
Brown J. 
                        ,
                            
Leshinsky-Silver E. 
                        ,
                            
Gilad R. 
                        ,
                            
Kors E.E. 
                        ,
                            
Frankhuizen W.S. 
                        ,
                            
Ginjaar H.B. 
                        ,
                            
Haan J. 
                        ,
                            
Frants R.R. 
                        ,
                            
Ferrari M.D. 
                        ,
                            
van den Maagdenberg A.M. 
                        ,
                            
Terwindt G.M. 
                        
                        
                        
                        
                            Clin. Genet.74:481-485(2008)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT FHM1 GLN-1346 
                    
                    
                 
             
         
            
        
            
                27.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 CYS-248 
                    
                    
                 
             
         
            
        
            
                28.
                
                    
                        
                            "Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene." 
                        
                        
                            Cuenca-Leon E. 
                        ,
                            
Banchs I. 
                        ,
                            
Serra S.A. 
                        ,
                            
Latorre P. 
                        ,
                            
Fernandez-Castillo N. 
                        ,
                            
Corominas R. 
                        ,
                            
Valverde M.A. 
                        ,
                            
Volpini V. 
                        ,
                            
Fernandez-Fernandez J.M. 
                        ,
                            
Macaya A. 
                        ,
                            
Cormand B. 
                        
                        
                        
                        
                            J. Neurol. Sci.280:10-14(2009)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 ASP-638;CHARACTERIZATION OF VARIANT EA2 ASP-638 
                    
                    
                 
             
         
            
        
            
                29.
                
                    
                        
                            "The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility." 
                        
                        
                            D'Onofrio M. 
                        ,
                            
Ambrosini A. 
                        ,
                            
Di Mambro A. 
                        ,
                            
Arisi I. 
                        ,
                            
Santorelli F.M. 
                        ,
                            
Grieco G.S. 
                        ,
                            
Nicoletti F. 
                        ,
                            
Nappi G. 
                        ,
                            
Pierelli F. 
                        ,
                            
Schoenen J. 
                        ,
                            
Buzzi M.G. 
                        
                        
                        
                        
                            Neurosci. Lett.453:12-15(2009)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS ASP-918 AND VAL-993 
                    
                    
                 
             
         
            
        
            
                30.
                
                    
                        
                            "A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation." 
                        
                        
                            Romaniello R. 
                        ,
                            
Zucca C. 
                        ,
                            
Tonelli A. 
                        ,
                            
Bonato S. 
                        ,
                            
Baschirotto C. 
                        ,
                            
Zanotta N. 
                        ,
                            
Epifanio R. 
                        ,
                            
Righini A. 
                        ,
                            
Bresolin N. 
                        ,
                            
Bassi M.T. 
                        ,
                            
Borgatti R. 
                        
                        
                        
                        
                            J. Neurol. Neurosurg. Psych.81:840-843(2010)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT SCA6 THR-405 
                    
                    
                 
             
         
            
        
            
                31.
                
                    
                        
                            "Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2." 
                        
                        
                            Mantuano E. 
                        ,
                            
Romano S. 
                        ,
                            
Veneziano L. 
                        ,
                            
Gellera C. 
                        ,
                            
Castellotti B. 
                        ,
                            
Caimi S. 
                        ,
                            
Testa D. 
                        ,
                            
Estienne M. 
                        ,
                            
Zorzi G. 
                        ,
                            
Bugiani M. 
                        ,
                            
Rajabally Y.A. 
                        ,
                            
Barcina M.J. 
                        ,
                            
Servidei S. 
                        ,
                            
Panico A. 
                        ,
                            
Frontali M. 
                        ,
                            
Mariotti C. 
                        
                        
                        
                        
                            J. Neurol. Sci.291:30-36(2010)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANTS EA2 PHE-389; MET-501; THR-798; ARG-897; CYS-1679 AND ARG-1869 
                    
                    
                 
             
         
            
        
            
                32.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT EA2 LYS-388