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Index > Protein center > CACNA1A(Gene name) > Human
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  • CACNA1A (Gene name),
  • Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Protein name ),  CAC1A_HUMAN from NCBI database.
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  • 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:
    Sequence length:
    2505
    Sequence:
    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 | 
    2505:
    DDDWC
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    SMR:
    Pfam:
    KEGG:
    UniGene:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    E1344r
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    MSDS:
    Please sign in first.
    ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    E1344h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    MSDS:
    Please sign in first.
    ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    E1344m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    U1344h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    U1344r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    MSDS:
    Please sign in first.
    CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    MSDS:
    Please sign in first.
    CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    U1344m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    P1344Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Cat.:
    P1344Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    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
    Cat.:
    P1344Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    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

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels."
      Hans M. , Urrutia A. , Deal C. , Brust P.F. , Stauderman K. , Ellis S.B. , Harpold M.M. , Johnson E.C. , Williams M.E.
      Biophys. J.76:1384-1400(1999) [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 [MRNA] (ISOFORMS 1 AND 2)
      tissue: Neuron.
    2. 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. 3.
      "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel."
      Zhuchenko O. , Bailey J. , Bonnen P.E. , Ashizawa T. , Stockton D.W. , Amos C. , Dobyns W.B. , Subramony S.H. , Zoghbi H.Y. , Lee C.C.
      Nat. Genet.15:62-69(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: 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. 4.
      "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function."
      Toru S. , Murakoshi T. , Ishikawa K. , Saegusa H. , Fujigasaki H. , Uchihara T. , Nagayama S. , Osanai M. , Mizusawa H. , Tanabe T.
      J. Biol. Chem.275:10893-10898(2000) [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 [MRNA] (ISOFORM 8);VARIANT SER-1105
      tissue: Cerebellum.
    5. 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. , 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. 6.
      "Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells."
      Barry E.L.R. , Viglione M.P. , Kim Y.I. , Froehner S.C.
      J. Neurosci.15:274-283(1995) [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 [MRNA] OF 1693-1807
      tissue: Lung carcinoma.
    7. 7.
      "Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma."
      Oguro-Okano M. , Griesmann G.E. , Wieben E.D. , Slaymaker S.J. , Snutch T.P. , Lennon V.A.
      Mayo Clin. Proc.67:1150-1159(1992) [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 [MRNA] OF 1702-1822;TISSUE SPECIFICITY
      tissue: Lung carcinoma.
    8. 8.
      "Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain."
      Margolis R.L. , Breschel T.S. , Li S.H. , Kidwai A.S. , Antonarakis S.E. , McInnis M.G. , Ross C.A.
      Somat. Cell Mol. Genet.21:279-284(1995) [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 [MRNA] OF 2038-2258 (ISOFORMS 1/2/3/4)
      tissue: Frontal cortex.
    9. 9.
      "Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1."
      Lee A. , Westenbroek R.E. , Haeseleer F. , Palczewski K. , Scheuer T. , Catterall W.A.
      Nat. Neurosci.5:210-217(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: INTERACTION WITH CABP1
    10. 10.
      "Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+."
      Mori M.X. , Vander Kooi C.W. , Leahy D.J. , Yue D.T.
      Structure16:607-620(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: X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 1955-1975
    11. 11.
      "Progressive ataxia due to a missense mutation in a calcium-channel gene."
      Yue Q. , Jen J.C. , Nelson S.F. , Baloh R.W.
      Am. J. Hum. Genet.61:1078-1087(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: VARIANT SCA6 ARG-293
    12. 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. 13.
      "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM."
      Friend K.L. , Crimmins D. , Phan T.G. , Sue C.M. , Colley A. , Fung V.S. , Morris J.G. , Sutherland G.R. , Richards R.I.
      Hum. Genet.105:261-265(1999) [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 HIS-1661
    14. 14.
      "Genetic heterogeneity in Italian families with familial hemiplegic migraine."
      Carrera P. , Piatti M. , Stenirri S. , Grimaldi L.M. , Marchioni E. , Curcio M. , Righetti P.G. , Ferrari M. , Gelfi C.
      Neurology53:26-33(1999) [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 VAL-993;VARIANT FHM1 LEU-1456
    15. 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. 16.
      "Missense CACNA1A mutation causing episodic ataxia type 2."
      Denier C. , Ducros A. , Durr A. , Eymard B. , Chassande B. , Tournier-Lasserve E.
      Arch. Neurol.58:292-295(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 EA2 LYS-1756
    17. 17.
      "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel."
      Ducros A. , Denier C. , Joutel A. , Cecillon M. , Lescoat C. , Vahedi K. , Darcel F. , Vicaut E. , Bousser M.G. , Tournier-Lasserve E.
      N. Engl. J. Med.345:17-24(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: VARIANTS FHM1 LYS-195; GLN-583; MET-666; GLU-715; GLU-1335; CYS-1384; TRP-1667; ARG-1683 AND ILE-1695
    18. 18.
      "Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission."
      Jen J. , Wan J. , Graves M. , Yu H. , Mock A.F. , Coulin C.J. , Kim G. , Yue Q. , Papazian D.M. , Baloh R.W.
      Neurology57:1843-1848(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 EA2 CYS-1403;CHARACTERIZATION OF VARIANT EA2 CYS-1403
    19. 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. 20.
      "Functional implications of a novel EA2 mutation in the P/Q-type calcium channel."
      Spacey S.D. , Hildebrand M.E. , Materek L.A. , Bird T.D. , Snutch T.P.
      Ann. Neurol.56:213-220(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: VARIANT EA2 LEU-1736
    21. 21.
      "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine."
      Alonso I. , Barros J. , Tuna A. , Seixas A. , Coutinho P. , Sequeiros J. , Silveira I.
      Clin. Genet.65:70-72(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: VARIANT FHM1 GLN-1346
    22. 22.
      "Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2."
      Mantuano E. , Veneziano L. , Spadaro M. , Giunti P. , Guida S. , Leggio M.G. , Verriello L. , Wood N. , Jodice C. , Frontali M.
      J. Med. Genet.41:E82-E82(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: VARIANTS EA2 ARG-256; ARG-1482; SER-1490; ILE-1493 AND CYS-2135
    23. 23.
      "Clinical spectrum of episodic ataxia type 2."
      Jen J. , Kim G.W. , Baloh R.W.
      Neurology62:17-22(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: VARIANTS EA2 TYR-287; ARG-293 AND MET-666
    24. 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. 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. 26.
      [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. 27.
      "Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation."
      Zafeiriou D.I. , Lehmann-Horn F. , Vargiami E. , Teflioudi E. , Ververi A. , Jurkat-Rott K.
      Eur. J. Paediatr. Neurol.13:191-193(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 CYS-248
    28. 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. 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. 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. 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. 32.
      "New mutation of CACNA1A gene in episodic ataxia type 2."
      Nikaido K. , Tachi N. , Ohya K. , Wada T. , Tsutsumi H.
      Pediatr. Int.53:415-416(2011) [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 LYS-388
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