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2. 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 [Abstract] [Full Text] [Related]
3. Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. 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 [Abstract] [Full Text] [Related]
5. 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 02; 7(5):e1110. PubMed ID: 28463240 [Abstract] [Full Text] [Related]
6. 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 02; 21(4):837-849. PubMed ID: 30206421 [Abstract] [Full Text] [Related]
10. 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 02; 25(6):763-767. PubMed ID: 28295038 [Abstract] [Full Text] [Related]
11. 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 02; 40(1):5-24. PubMed ID: 30328660 [Abstract] [Full Text] [Related]
18. IQSEC2-Associated Intellectual Disability and Autism. Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Int J Mol Sci; 2019 Jun 21; 20(12):. PubMed ID: 31234416 [Abstract] [Full Text] [Related]
20. Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Eur J Hum Genet; 2014 Feb 21; 22(2):289-92. PubMed ID: 23674175 [Abstract] [Full Text] [Related] Page: [Next] [New Search]