258 related articles for article (PubMed ID: 28463240)
1. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.
Hinze SJ; Jackson MR; Lie S; Jolly L; Field M; Barry SC; Harvey RJ; Shoubridge C
Transl Psychiatry; 2017 May; 7(5):e1110. PubMed ID: 28463240
[TBL] [Abstract][Full Text] [Related]
2. Heterozygous loss of function of
Jackson MR; Loring KE; Homan CC; Thai MH; Määttänen L; Arvio M; Jarvela I; Shaw M; Gardner A; Gecz J; Shoubridge C
Life Sci Alliance; 2019 Aug; 2(4):. PubMed ID: 31439632
[TBL] [Abstract][Full Text] [Related]
3. A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I; Alvarez-Mora MI; Rosell J; Rodríguez-Revenga L; Karlberg O; Sauer S; Syvänen AC; Mila M
Eur J Hum Genet; 2016 Aug; 24(8):1117-23. PubMed ID: 26733290
[TBL] [Abstract][Full Text] [Related]
4. IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B; Stern T; Shekhidem HA; Mizrahi L; Rosh I; Stern Y; Ofer P; Asleh A; Umanah GKE; Jada R; Levy NS; Levy AP; Stern S
Mol Psychiatry; 2021 Dec; 26(12):7498-7508. PubMed ID: 34535765
[TBL] [Abstract][Full Text] [Related]
5. Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
Sah M; Shore AN; Petri S; Kanber A; Yang M; Weston MC; Frankel WN
Neurobiol Dis; 2020 Apr; 137():104758. PubMed ID: 31978606
[TBL] [Abstract][Full Text] [Related]
6. IQSEC2-Associated Intellectual Disability and Autism.
Levy NS; Umanah GKE; Rogers EJ; Jada R; Lache O; Levy AP
Int J Mol Sci; 2019 Jun; 20(12):. PubMed ID: 31234416
[TBL] [Abstract][Full Text] [Related]
7. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Shoubridge C; Harvey RJ; Dudding-Byth T
Hum Mutat; 2019 Jan; 40(1):5-24. PubMed ID: 30328660
[TBL] [Abstract][Full Text] [Related]
8. A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
Zou Q; Zheng J; Zhang R; Fang Y; Cai C
Psychiatr Genet; 2019 Dec; 29(6):243-247. PubMed ID: 31490346
[TBL] [Abstract][Full Text] [Related]
9. A Novel X-Linked Variant of
Choi MH; Yang JO; Min JS; Lee JJ; Jun SY; Lee YJ; Yoon JY; Jeon SJ; Byeon I; Kang JW; Kim NS
Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
[No Abstract] [Full Text] [Related]
10. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
Fieremans N; Van Esch H; de Ravel T; Van Driessche J; Belet S; Bauters M; Froyen G
Eur J Med Genet; 2015 May; 58(5):324-7. PubMed ID: 25858702
[TBL] [Abstract][Full Text] [Related]
11. IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge C; Dudding-Byth T; Pasquier L; Goel H; Yap P; McConnell V
Clin Genet; 2022 Jul; 102(1):72-77. PubMed ID: 35347702
[TBL] [Abstract][Full Text] [Related]
12. Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis.
Nodé-Langlois R; Muller D; Boda B
J Cell Sci; 2006 Dec; 119(Pt 23):4986-93. PubMed ID: 17105769
[TBL] [Abstract][Full Text] [Related]
13. Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Wayhelova M; Ryzí M; Oppelt J; Hladilkova E; Vallova V; Krskova L; Vilemova M; Polackova H; Gaillyova R; Kuglik P
Neurogenetics; 2020 Oct; 21(4):269-278. PubMed ID: 32564198
[TBL] [Abstract][Full Text] [Related]
14. An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ; Jada R; Schragenheim-Rozales K; Sah M; Cortes M; Florence M; Levy NS; Moss R; Walikonis RS; Palty R; Shalgi R; Lichtman D; Kavushansky A; Gerges NZ; Kahn I; Umanah GKE; Levy AP
Front Mol Neurosci; 2019; 12():43. PubMed ID: 30842726
[TBL] [Abstract][Full Text] [Related]
15. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C
Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
[TBL] [Abstract][Full Text] [Related]
16. The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
Montani C; Ramos-Brossier M; Ponzoni L; Gritti L; Cwetsch AW; Braida D; Saillour Y; Terragni B; Mantegazza M; Sala M; Verpelli C; Billuart P; Sala C
J Neurosci; 2017 Jul; 37(28):6606-6627. PubMed ID: 28576939
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
18. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J; Hu JH; Campeau PM; Rzonca S; Van Esch H; Vincent E; Han M; Rossignol E; Castaneda J; Chelly J; Skinner C; Kalscheuer VM; Wang R; Lemyre E; Kosinska J; Stawinski P; Bal J; Hoffman DA; Schwartz CE; Van Maldergem L; Wang T; Worley PF
Hum Mol Genet; 2018 Feb; 27(4):589-600. PubMed ID: 29267967
[TBL] [Abstract][Full Text] [Related]
19. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
20. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C; McMahon AC; Bar C; Campeau PM; Davidson C; Buratti J; Nava C; Jacquemont ML; Tallot M; Milh M; Edery P; Marzin P; Barcia G; Barnerias C; Besmond C; Bienvenu T; Bruel AL; Brunga L; Ceulemans B; Coubes C; Cristancho AG; Cunningham F; Dehouck MB; Donner EJ; Duban-Bedu B; Dubourg C; Gardella E; Gauthier J; Geneviève D; Gobin-Limballe S; Goldberg EM; Hagebeuk E; Hamdan FF; Hančárová M; Hubert L; Ioos C; Ichikawa S; Janssens S; Journel H; Kaminska A; Keren B; Koopmans M; Lacoste C; Laššuthová P; Lederer D; Lehalle D; Marjanovic D; Métreau J; Michaud JL; Miller K; Minassian BA; Morales J; Moutard ML; Munnich A; Ortiz-Gonzalez XR; Pinard JM; Prchalová D; Putoux A; Quelin C; Rosen AR; Roume J; Rossignol E; Simon MEH; Smol T; Shur N; Shelihan I; Štěrbová K; Vyhnálková E; Vilain C; Soblet J; Smits G; Yang SP; van der Smagt JJ; van Hasselt PM; van Kempen M; Weckhuysen S; Helbig I; Villard L; Héron D; Koeleman B; Møller RS; Lesca G; Helbig KL; Nabbout R; Verbeek NE; Depienne C
Genet Med; 2019 Apr; 21(4):837-849. PubMed ID: 30206421
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]