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376 related items for PubMed ID: 32600841

  • 1. Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
    Panda PK, Sharawat IK, Joshi K, Dawman L, Bolia R.
    Brain Dev; 2020 Oct; 42(9):646-654. PubMed ID: 32600841
    [Abstract] [Full Text] [Related]

  • 2. NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.
    Chen S, Deng X, Xiong J, Chen B, He F, Yang L, Yang L, Peng J, Yin F.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Feb 28; 47(2):265-270. PubMed ID: 35545418
    [Abstract] [Full Text] [Related]

  • 3. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
    Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE.
    Genet Med; 2021 Feb 28; 23(2):363-373. PubMed ID: 33144681
    [Abstract] [Full Text] [Related]

  • 4. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
    de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.
    J Med Genet; 2016 Dec 28; 53(12):850-858. PubMed ID: 27358180
    [Abstract] [Full Text] [Related]

  • 5. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
    Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung WK.
    Clin Genet; 2017 May 28; 91(5):756-763. PubMed ID: 27568816
    [Abstract] [Full Text] [Related]

  • 6. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
    Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A.
    J Hum Genet; 2018 Jul 28; 63(7):847-850. PubMed ID: 29717186
    [Abstract] [Full Text] [Related]

  • 7. NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
    Langley E, Farach LS, Koenig MK, Northrup H, Rodriguez-Buritica DF, Mowrey K.
    Am J Med Genet A; 2022 Jun 28; 188(6):1688-1692. PubMed ID: 35146903
    [Abstract] [Full Text] [Related]

  • 8. Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
    Wu D, Ji C, Chen Z, Wang K.
    Am J Med Genet A; 2020 Nov 28; 182(11):2765-2772. PubMed ID: 32924309
    [Abstract] [Full Text] [Related]

  • 9. Torpedo Maculopathy Associated with NEXMIF Mutation.
    Alarcon-Martinez T, Khan A, Myers KA.
    Mol Syndromol; 2019 Jul 28; 10(4):229-233. PubMed ID: 31602197
    [Abstract] [Full Text] [Related]

  • 10. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
    Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
    Am J Med Genet A; 2015 Jun 28; 167(6):1349-53. PubMed ID: 25900396
    [Abstract] [Full Text] [Related]

  • 11. [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].
    Gamirova RG, Barkov AI, Shaimuchametova VA, Liukshina NG, Volkov IV, Tomenko TR, Rachmanina OA, Shestakova OI, Gorobets EA.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2022 Jun 28; 122(9. Vyp. 2):14-20. PubMed ID: 36170093
    [Abstract] [Full Text] [Related]

  • 12. NEXMIF variants are associated with epilepsy with or without intellectual disability.
    Ye ZL, Yan HJ, Guo QH, Zhang SQ, Luo S, Lian YJ, Ma YQ, Lu XG, Liu XR, Shen NX, Gao LD, Chen Z, Shi YW.
    Seizure; 2024 Mar 28; 116():93-99. PubMed ID: 37643945
    [Abstract] [Full Text] [Related]

  • 13. [Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].
    Li Z, Liu K, Zhao X, Li L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul 10; 41(7):821-824. PubMed ID: 38946365
    [Abstract] [Full Text] [Related]

  • 14. Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
    Lorenzo M, Stolte-Dijkstra I, van Rheenen P, Smith RG, Scheers T, Walia JS.
    Am J Med Genet A; 2018 Jun 10; 176(6):1455-1462. PubMed ID: 29693785
    [Abstract] [Full Text] [Related]

  • 15. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
    Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
    Am J Hum Genet; 2020 Dec 03; 107(6):1157-1169. PubMed ID: 33159883
    [Abstract] [Full Text] [Related]

  • 16. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Dec 03; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 17. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
    Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.
    Hum Mol Genet; 2013 Aug 15; 22(16):3306-14. PubMed ID: 23615299
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 63(3):103735. PubMed ID: 31415821
    [Abstract] [Full Text] [Related]

  • 19. KIAA2022 nonsense mutation in a symptomatic female.
    Farach LS, Northrup H.
    Am J Med Genet A; 2016 Mar 15; 170(3):703-6. PubMed ID: 26576034
    [Abstract] [Full Text] [Related]

  • 20. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
    Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM.
    Mol Psychiatry; 2018 Feb 15; 23(2):222-230. PubMed ID: 27550844
    [Abstract] [Full Text] [Related]

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