| 1 | CACNA1B, NEDNEH
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| Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
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| Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.
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| Am J Hum Genet 104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. 2019
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| 2 | CACNA1B, DMXL2
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| Interactions of Rabconnectin-3 with Cav2 calcium channels.
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| Gandini MA, Souza IA, Fan J, Li K, Wang D, Zamponi GW.
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| Mol Brain. Jun 28;12(1):62. doi: 10.1186/s13041-019-0483-y. 2019
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| 3 | CACNA1B, DYT23, DYT26, DYT4, KCTD17, TUBB4A
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| Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
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| Domingo A, Erro R, Lohmann K.
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| Mov Disord 31(4):471-7. doi: 10.1002/mds.26600. Review.
2016
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| 4 | CACNA1B, DYT23
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| CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
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| Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nürnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA.
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| Hum Mol Genet 24(4):987-93. doi: 10.1093/hmg/ddu513.
2015
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| 5 | CACNA1B
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| Alternative Splicing in Ca(V)2.2 Regulates Neuronal Trafficking via Adaptor Protein Complex-1 Adaptor Protein Motifs.
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| Macabuag N, Dolphin AC.
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| J Neurosci 35(43):14636-52. doi: 10.1523/JNEUROSCI.3034-15.2015.
2015
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| 6 | CACNA1A, CACNA1B, GHSR
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| Constitutive and ghrelin-dependent GHSR1a activation impairs CaV2.1 and CaV2.2 currents in hypothalamic neurons.
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| López Soto EJ, Agosti F, Cabral A, Mustafa ER, Damonte VM, Gandini MA, Rodríguez S, Castrogiovanni D, Felix R, Perelló M, Raingo J.
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| J Gen Physiol 146(3):205-19. doi: 10.1085/jgp.201511383.
2015
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| 7 | CACNA1B
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| "Slow" Voltage-Dependent Inactivation of CaV2.2 Calcium Channels Is Modulated by the PKC Activator Phorbol 12-Myristate 13-Acetate (PMA).
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| Zhu L, McDavid S, Currie KP.
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| PLoS One 10(7):e0134117. doi: 10.1371/journal.pone.0134117.
2015
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| 8 | ANO3, CACNA1B, DYT23, DYT24, DYT25, GNAL
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| Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
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| Balint B, Bhatia KP.
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| Curr Opin Neurol 27(4):468-76. doi: 10.1097/WCO.0000000000000114. Review.
2014
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| 9 | CACNA1B
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| Voltage-dependent regulation of CaV2.2 channels by Gq-coupled receptor is facilitated by membrane-localized β subunit.
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| Keum D, Baek C, Kim DI, Kweon HJ, Suh BC.
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| J Gen Physiol 144(4):297-309. doi: 10.1085/jgp.201411245.
2014
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| 10 | CACNA1A, CACNA1B, CACNA1E
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| Distinct roles for Cav2.1-2.3 in activity-dependent synaptic dynamics.
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| Ricoy UM, Frerking ME.
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| J Neurophysiol 111(12):2404-13. doi: 10.1152/jn.00335.2013. Epub 2014 Feb 12.
2014
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| 11 | CACNA1B, DPYSL2
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| SUMOylation alters CRMP2 regulation of calcium influx in sensory neurons.
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| Ju W, Li Q, Wilson SM, Brittain JM, Meroueh L, Khanna R.
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| Channels (Austin) 7(3):153-9. doi: 10.4161/chan.24224. Epub 2013 Mar 19.
2013
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| 12 | BSN, CACNA1A, CACNA1B
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| Active zone protein Bassoon co-localizes with presynaptic calcium channel, modifies channel function, and recovers from aging related loss by exercise.
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| Nishimune H, Numata T, Chen J, Aoki Y, Wang Y, Starr MP, Mori Y, Stanford JA.
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| PLoS One 7(6):e38029. doi: 10.1371/journal.pone.0038029. Epub 2012 Jun 6.
2012
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| 13 | CACNA1B, STX1A
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| Bipartite syntaxin 1A interactions mediate CaV2.2 calcium channel regulation.
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| Davies JN, Jarvis SE, Zamponi GW.
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| Biochem Biophys Res Commun 411(3):562-8. Epub 2011 Jul 5.
2011
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| 14 | CACNA1B, CACNG2
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| Stargazin modulates neuronal voltage-dependent Ca(2+) channel Ca(v)2.2 by a Gbetagamma-dependent mechanism.
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| Tselnicker I, Tsemakhovich VA, Dessauer CW, Dascal N.
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| J Biol Chem 285(27):20462-71. Epub 2010 Apr 30.
2010
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| 15 | CACNA1B
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| Long C terminal splice variant CaV2.2 identified in presynaptic membrane by mass spectrometric analysis.
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| Gardezi SR, Taylor P, Stanley EF.
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| Channels (Austin) 4(1):58-62. Epub 2010 Jan 16.
2010
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| 16 | CACNA1A, CACNA1B, NOVA2
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| The neuronal splicing factor Nova controls alternative splicing in N-type and P-type CaV2 calcium channels.
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| Allen SE, Darnell RB, Lipscombe D.
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| Channels (Austin) 4(6):483-9. Epub 2010 Nov 1. Review.
2010
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| 17 | CACNA1B, PDLIM5
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| PDLIM5 is not a neuronal CaV2.2 adaptor protein.
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| Gardezi SR, Weber AM, Li Q, Wong FK, Stanley EF.
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| Nat Neurosci 12(8):957-8; author reply 958. doi: 10.1038/nn0809-957a. No abstract available.
2009
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| 18 | CACNA1B
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| The role of MAP1A light chain 2 in synaptic surface retention of Cav2.2 channels in hippocampal neurons.
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| Leenders AG, Lin L, Huang LD, Gerwin C, Lu PH, Sheng ZH.
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| J Neurosci 28(44):11333-46.
2008
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| 19 | CACNA1B
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| The transmitter release-site CaV2.2 channel cluster is linked to an endocytosis coat protein complex.
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| Khanna R, Li Q, Schlichter LC, Stanley EF.
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| Eur J Neurosci 26(3):560-74.
2007
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| 20 | CACNA1B
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| The presynaptic CaV2.2 channel-transmitter release site core complex.
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| Khanna R, Li Q, Bewersdorf J, Stanley EF.
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| Eur J Neurosci 26(3):547-59.
2007
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| 21 | CACNA1A, CACNA1B
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| Differential regulation of endogenous N- and P/Q-type Ca2+ channel inactivation by Ca2+/calmodulin impacts on their ability to support exocytosis in chromaffin cells.
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| Wykes RC, Bauer CS, Khan SU, Weiss JL, Seward EP.
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| J Neurosci 27(19):5236-48.
2007
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| 22 | CACNA1B
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| Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels.
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| Castiglioni AJ, Raingo J, Lipscombe D.
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| J Physiol 576(Pt 1):119-34. Epub 2006 Jul 20.
2006
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| 23 | CACNA1B, CACNA1S
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| Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling.
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| Cheng W, Altafaj X, Ronjat M, Coronado R.
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| Proc Natl Acad Sci U S A 102(52):19225-30. Epub 2005 Dec 15.
2005
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| 24 | CACNA1B, CACNB1
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| Identification and characterization of novel human Ca(v)2.2 (alpha 1B) calcium channel variants lacking the synaptic protein interaction site.
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| Kaneko S, Cooper CB, Nishioka N, Yamasaki H, Suzuki A, Jarvis SE, Akaike A, Satoh M, Zamponi GW.
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| J Neurosci 22(1):82-92. 2002
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| 25 | CACNA1A, CACNA1B, CACNA1E
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| Locations of human genes for alpha1A, alpha1B, and alpha1E calcium channels determined by radiation hybrid mapping.
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| Yamazaki K, et al.
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| J Inherit 89 : 269-271. 1998
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| 26 | CACNA1B
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| Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis.
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| Kim DS, et al.
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| J Biol Chem 272(8):5098-104. 1997
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| 27 | CACNA1A, CACNA1B, CACNA1E
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| Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
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| Diriong S, et al.
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| Genomics 30 : 605-609. 1995
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| 28 | CACNA1B
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| Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel.
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| Williams ME, et al.
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| Science 257 : 389-395. 1992
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