Novel Missense
CACNA1G mutation
deep cerebellar nuclei
developmental and epileptic encephalopathy
gain of function
loss of function
voltage-dependent T-type calcium channel
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
31 Aug 2020
31 Aug 2020
Historique:
received:
24
07
2020
revised:
29
08
2020
accepted:
29
08
2020
entrez:
4
9
2020
pubmed:
4
9
2020
medline:
26
3
2021
Statut:
epublish
Résumé
The
Identifiants
pubmed: 32878331
pii: ijms21176333
doi: 10.3390/ijms21176333
pmc: PMC7503748
pii:
doi:
Substances chimiques
CACNA1G protein, human
0
Calcium Channels, T-Type
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Health and Medical Research Council
ID : 10915693
Organisme : National Health and Medical Research Council
ID : GNT1005050
Organisme : Victorian State Government
ID : Infrastructure Funds
Références
Circulation. 2009 Mar 31;119(12):1562-75
pubmed: 19289639
J Neurosci. 1999 Mar 15;19(6):1895-911
pubmed: 10066243
Neuropharmacology. 2016 Oct;109:49-58
pubmed: 27245500
J Neurosci. 2004 Jun 2;24(22):5249-57
pubmed: 15175395
Neurosci Lett. 2019 Jan 1;688:41-48
pubmed: 29421541
Front Cell Neurosci. 2013 Nov 27;7:230
pubmed: 24348329
Epilepsia. 2017 Aug;58(8):e111-e115
pubmed: 28556246
Front Physiol. 2015 Feb 02;6:19
pubmed: 25698974
Hum Mutat. 2015 Oct;36(10):928-30
pubmed: 26220891
FEBS Lett. 2008 Nov 12;582(27):3765-70
pubmed: 18930057
Biochem Biophys Res Commun. 2011 Jun 24;410(1):19-23
pubmed: 21621520
Neuron. 2001 Jul 19;31(1):35-45
pubmed: 11498049
Nature. 2013 Sep 12;501(7466):217-21
pubmed: 23934111
PLoS Comput Biol. 2015 Dec 02;11(12):e1004641
pubmed: 26630202
Epilepsia Open. 2019 Jul 22;4(3):504-510
pubmed: 31440733
J Neurosci. 2009 Aug 5;29(31):9668-82
pubmed: 19657020
Curr Opin Neurol. 2011 Aug;24(4):339-45
pubmed: 21734495
Biophys J. 2001 Mar;80(3):1238-50
pubmed: 11222288
J Gen Physiol. 2014 Apr;143(4):465-79
pubmed: 24688019
Circ Res. 2006 Jun 9;98(11):1422-30
pubmed: 16690884
J Mol Cell Cardiol. 2010 Jan;48(1):65-70
pubmed: 19729018
Hum Mutat. 2007 May;28(5):524-5
pubmed: 17397049
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Brain. 2018 Jul 1;141(7):1998-2013
pubmed: 29878067
J Med Genet. 2020 Jan;57(1):1-10
pubmed: 31217264
Medicine (Baltimore). 2018 Sep;97(36):e12148
pubmed: 30200108
Nat Genet. 2017 Apr;49(4):515-526
pubmed: 28191889
Mol Brain. 2015 Dec 29;8:89
pubmed: 26715324
J Physiol. 1989 Jul;414:587-604
pubmed: 2607443
Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525
pubmed: 29844171
Front Neuroanat. 2016 Aug 26;10:83
pubmed: 27616982
Nat Rev Drug Discov. 2016 Jan;15(1):19-34
pubmed: 26542451
J Biol Chem. 2000 Mar 3;275(9):6090-100
pubmed: 10692398
Neuroscience. 2003;117(2):321-35
pubmed: 12614673
Nat Genet. 2013 Jul;45(7):825-30
pubmed: 23708187
Glia. 2004 Nov 1;48(2):112-9
pubmed: 15378657
Am J Hum Genet. 2015 Nov 5;97(5):726-37
pubmed: 26456284
Annu Rev Physiol. 1996;58:329-48
pubmed: 8815798
Epilepsia. 2016 Jun;57(6):e103-7
pubmed: 27112236
Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5555-60
pubmed: 16567615
Channels (Austin). 2017 Mar 4;11(2):121-139
pubmed: 27653665
Front Physiol. 2015 May 19;6:153
pubmed: 26042044
Science. 2015 Dec 18;350(6267):aad2395
pubmed: 26680202
Curr Neurol Neurosci Rep. 2012 Jun;12(3):227-36
pubmed: 22527681
Physiol Rev. 2003 Jan;83(1):117-61
pubmed: 12506128
Mol Syndromol. 2016 Sep;7(4):210-219
pubmed: 27781031