Natural Course of
IQSEC2 gene
Rett syndrome
X-linked intellectual disability
co-sleeping
developmental encephalopathies
epilepsy
gut–brain axis
sleep disorders
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
24 Aug 2023
24 Aug 2023
Historique:
received:
20
07
2023
revised:
16
08
2023
accepted:
22
08
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (
Identifiants
pubmed: 37761403
pii: children10091442
doi: 10.3390/children10091442
pmc: PMC10528631
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Eur J Hum Genet. 2015 Nov;23(11):1513-8
pubmed: 25649377
Life Sci Alliance. 2019 Aug 22;2(4):
pubmed: 31439632
Neuron. 2007 Nov 8;56(3):422-37
pubmed: 17988628
Ment Retard Dev Disabil Res Rev. 2002;8(2):61-5
pubmed: 12112728
Eur J Paediatr Neurol. 2019 Jan;23(1):214-221
pubmed: 30262236
BMJ Paediatr Open. 2020 Sep 22;4(1):e000731
pubmed: 33024833
Mov Disord. 1990;5(3):195-202
pubmed: 2388636
Transl Psychiatry. 2017 May 2;7(5):e1110
pubmed: 28463240
Nature. 2017 Oct 11;550(7675):244-248
pubmed: 29022598
J Endocrinol Invest. 2006 Jul-Aug;29(7):581-93
pubmed: 16957405
J Pediatr Gastroenterol Nutr. 2021 Mar 1;72(3):354-360
pubmed: 32969958
Lancet Neurol. 2016 Mar;15(3):304-16
pubmed: 26597089
Chest. 2010 Aug;138(2):386-92
pubmed: 20348192
J Child Psychol Psychiatry. 2002 Nov;43(8):1099-110
pubmed: 12455930
Nature. 2012 Nov 1;491(7422):56-65
pubmed: 23128226
Am J Med Genet A. 2017 Oct;173(10):2814-2820
pubmed: 28815955
Lancet Diabetes Endocrinol. 2023 Mar;11(3):203-216
pubmed: 36620967
Ann Neurol. 2010 Dec;68(6):944-50
pubmed: 21154482
J Genet. 2020;99:
pubmed: 32529990
Arch Psychiatr Nurs. 2018 Jun;32(3):483-487
pubmed: 29784234
BMC Neurol. 2023 Apr 4;23(1):141
pubmed: 37016355
Acta Paediatr Suppl. 2002;91(439):107-12
pubmed: 12572852
Clin Genet. 2021 Mar;99(3):462-474
pubmed: 33368194
J Med Genet. 2014 Mar;51(3):152-8
pubmed: 24399845
Fertil Steril. 2022 Dec;118(6):1001-1012
pubmed: 36351856
Fac Rev. 2021 Jun 29;10:59
pubmed: 34308425
Neurology. 2008 Apr 15;70(16):1313-21
pubmed: 18337588
Front Psychiatry. 2023 Feb 23;14:1122344
pubmed: 36911135
Int J Mol Sci. 2019 Jun 21;20(12):
pubmed: 31234416
Child Psychiatry Hum Dev. 2006 Winter;37(2):179-91
pubmed: 17001527
Hum Mutat. 2017 Feb;38(2):216-225
pubmed: 27864847
Int J Mol Sci. 2022 Aug 22;23(16):
pubmed: 36012761
Nat Rev Neurol. 2014 May;10(5):283-92
pubmed: 24733163
Microbiome. 2016 Jul 30;4(1):41
pubmed: 27473171
Am J Med Genet A. 2018 Jul;176(7):1569-1577
pubmed: 29704311
Nat Commun. 2016 Mar 24;7:11080
pubmed: 27009485
J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8
pubmed: 22331013
Nat Genet. 2018 Jul;50(7):1048-1053
pubmed: 29942082
J Neurodev Disord. 2014;6(1):44
pubmed: 25530819
Neurobiol Dis. 2016 Aug;92(Pt A):64-71
pubmed: 25982834
Nat Genet. 1999 Oct;23(2):185-8
pubmed: 10508514
J Genet Couns. 2014 Jun;23(3):289-98
pubmed: 24306141
J Med Genet. 2023 Oct;60(10):951-959
pubmed: 37055168
Hum Mutat. 2019 Jan;40(1):5-24
pubmed: 30328660
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Mutat. 2003 May;21(5):466-72
pubmed: 12673788
Int J Mol Sci. 2023 Mar 05;24(5):
pubmed: 36902414
Int J Mol Sci. 2019 Aug 12;20(16):
pubmed: 31409060
Eur J Med Genet. 2020 Mar;63(3):103735
pubmed: 31415821
Epilepsia. 2016 Jun;57(6):861-8
pubmed: 27226047
Sleep Breath. 2013 Mar;17(1):93-8
pubmed: 22392651
Mediators Inflamm. 2014;2014:560120
pubmed: 24757286
Clin Genet. 2021 Jul;100(1):14-28
pubmed: 33619735
iScience. 2022 Jul 01;25(8):104698
pubmed: 35856030
Scand J Gastroenterol. 1997 Sep;32(9):920-4
pubmed: 9299672
J Sleep Res. 1996 Dec;5(4):251-61
pubmed: 9065877
J Pediatr. 2008 Oct;153(4):503-8
pubmed: 18582898
Front Neurol. 2022 Mar 29;13:833239
pubmed: 35422749
Epileptic Disord. 2021 Feb 1;23(1):40-52
pubmed: 33632673
Eur J Hum Genet. 2016 Mar;24(3):373-80
pubmed: 26059843
Heliyon. 2020 Jun 20;6(6):e04222
pubmed: 32613111
Genet Med. 2019 Aug;21(8):1897-1898
pubmed: 30279470
Genes (Basel). 2021 Jul 28;12(8):
pubmed: 34440332
Cells. 2023 May 21;12(10):
pubmed: 37408271
Pediatrics. 2016 May;137(5):
pubmed: 27244835
Eur J Hum Genet. 2014 Feb;22(2):289-92
pubmed: 23674175
Syst Rev. 2023 Jan 16;12(1):5
pubmed: 36642718
Genes (Basel). 2023 May 26;14(6):
pubmed: 37372334
Clin Case Rep. 2017 Aug 24;5(10):1639-1643
pubmed: 29026562
J Biol Chem. 2016 Apr 22;291(17):9105-18
pubmed: 26884337
Nat Rev Genet. 2009 Feb;10(2):83-93
pubmed: 19119264
Pediatr Neurol. 2014 Dec;51(6):769-75
pubmed: 25283752
Neurology. 2008 Mar 11;70(11):868-75
pubmed: 18332345
Nat Genet. 2010 Jun;42(6):486-8
pubmed: 20473311
Neurobiol Dis. 2020 Apr;137:104758
pubmed: 31978606
J Pediatr. 1994 Aug;125(2):218-24
pubmed: 8040765
Psychiatr Genet. 2016 Jun;26(3):101-8
pubmed: 27010919
Curr Opin Genet Dev. 2015 Apr;31:57-66
pubmed: 26004255
Neurology. 2012 Oct 16;79(16):1653-61
pubmed: 23035069
Clin Genet. 2019 Apr;95(4):496-506
pubmed: 30666632
Nature. 2005 Mar 17;434(7031):400-4
pubmed: 15772666
Child Care Health Dev. 2019 Sep;45(5):654-659
pubmed: 31163096
Qual Life Res. 2019 Mar;28(3):783-794
pubmed: 30460513
Front Mol Neurosci. 2019 Feb 20;12:43
pubmed: 30842726
JAMA Pediatr. 2013 Nov;167(11):1032-7
pubmed: 24080961