A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy.
KCNQ3
early‐onset epileptic encephalopathy
homozygous loss‐of‐function variant
intellectual disability
next‐generation sequencing
nonsense‐mediated mRNA decay
Journal
Epilepsia open
ISSN: 2470-9239
Titre abrégé: Epilepsia Open
Pays: United States
ID NLM: 101692036
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
09
04
2019
revised:
04
07
2019
accepted:
28
07
2019
entrez:
24
8
2019
pubmed:
24
8
2019
medline:
24
8
2019
Statut:
epublish
Résumé
Heterozygous variants in Exome sequencing was used for genetic investigation. KCNQ3 transcript and subunit expression in fibroblasts was analyzed with quantitative real-time PCR and Western blotting or immunofluorescence, respectively. Whole-cell patch-clamp electrophysiology was used for functional characterization of mutant subunits. A novel single-base duplication in exon 12 of The present results indicate that a homozygous
Identifiants
pubmed: 31440727
doi: 10.1002/epi4.12353
pii: EPI412353
pmc: PMC6698674
doi:
Types de publication
Journal Article
Langues
eng
Pagination
464-475Déclaration de conflit d'intérêts
The authors declare no competing financial interests. The Authors confirm that they have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
Références
Mol Neurobiol. 2018 Aug;55(8):7009-7024
pubmed: 29383681
J Biol Chem. 2006 Jan 6;281(1):418-28
pubmed: 16260777
Br J Pharmacol. 2000 Feb;129(3):413-5
pubmed: 10711337
Epilepsia. 2015 Jul;56(7):1071-80
pubmed: 25982755
Expert Rev Mol Diagn. 2015;15(12):1531-8
pubmed: 26565596
Nature. 2017 Feb 23;542(7642):433-438
pubmed: 28135719
Epilepsia. 2013 May;54(5):e86-9
pubmed: 23566103
Brain. 2003 Dec;126(Pt 12):2726-37
pubmed: 14534157
Seizure. 2018 Jul;59:132-140
pubmed: 29852413
Hum Mutat. 2014 Mar;35(3):356-67
pubmed: 24375629
J Neurosci. 2014 Apr 9;34(15):5311-21
pubmed: 24719109
J Neurosci. 2015 Mar 4;35(9):3782-93
pubmed: 25740509
PLoS One. 2015 Dec 21;10(12):e0145367
pubmed: 26692086
Biochim Biophys Acta. 2015 Sep;1852(9):1856-66
pubmed: 26073431
Mol Biol Cell. 2013 Feb;24(3):274-84
pubmed: 23242999
Nature. 2013 Sep 12;501(7466):217-21
pubmed: 23934111
Nucleic Acids Res. 2009 Jul;37(Web Server issue):W593-9
pubmed: 19465395
Nat Genet. 1998 Jan;18(1):53-5
pubmed: 9425900
J Neurosci. 2003 Jun 15;23(12):5012-9
pubmed: 12832524
Ann Neurol. 2014 Mar;75(3):382-94
pubmed: 24318194
Nat Rev Neurosci. 2000 Oct;1(1):21-30
pubmed: 11252765
Neurol Genet. 2016 Aug 22;2(5):e96
pubmed: 27602407
Brain Dev. 2008 May;30(5):362-9
pubmed: 18166285
Physiology (Bethesda). 2011 Oct;26(5):365-76
pubmed: 22013194
Epilepsia. 2013 Mar;54(3):425-36
pubmed: 23360469
Neurobiol Dis. 2015 Aug;80:80-92
pubmed: 26007637
Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4914-9
pubmed: 10781098
Nucleic Acids Res. 2016 Feb 29;44(4):1483-95
pubmed: 26773057
Ann Neurol. 2019 Aug;86(2):181-192
pubmed: 31177578
Neurobiol Dis. 2018 Oct;118:76-93
pubmed: 30008368
Clin Genet. 2016 Jun;89(6):700-7
pubmed: 26757139
Epilepsia Open. 2019 Aug 11;4(3):464-475
pubmed: 31440727
J Physiol. 2008 Apr 1;586(7):1803-10
pubmed: 18218681
Mol Cell. 2010 Aug 13;39(3):396-409
pubmed: 20691628
J Neurosci. 2010 Oct 6;30(40):13235-45
pubmed: 20926649
Pediatr Neurol. 2009 Nov;41(5):367-70
pubmed: 19818940
Science. 1998 Dec 4;282(5395):1890-3
pubmed: 9836639
Ann Neurol. 2012 Jan;71(1):15-25
pubmed: 22275249
J Neurosci. 2007 May 2;27(18):4919-28
pubmed: 17475800
Physiol Rep. 2016 Feb;4(2):
pubmed: 26811054
Exp Dermatol. 2015 Apr;24(4):314-6
pubmed: 25651864
CNS Drugs. 2015;29(10):847-63
pubmed: 26400189
J Physiol. 2002 Oct 1;544(Pt 1):29-37
pubmed: 12356878
Neurology. 2013 Nov 5;81(19):1697-703
pubmed: 24107868
Nat Rev Neurol. 2018 Dec;14(12):735-745
pubmed: 30448857
Nat Rev Mol Cell Biol. 2015 Nov;16(11):665-77
pubmed: 26397022
Epilepsia. 2017 Jan;58(1):e10-e15
pubmed: 27861786
Lancet. 2012 Nov 10;380(9854):1674-82
pubmed: 23020937
Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4386-91
pubmed: 23440208
Epilepsia. 2015 Feb;56(2):e15-20
pubmed: 25524373
Hum Mutat. 2015 Dec;36(12):1197-204
pubmed: 26350204
Sci Rep. 2016 Dec 01;6:38167
pubmed: 27905566
Eur J Hum Genet. 2016 May;24(5):660-5
pubmed: 26350515
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669