| [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].", trans "Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022. | [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. | 10/8/2022 |
| Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation. | Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
Celik G, Gunay M, Vural A, Kizilay O, Demirkol YK, Erol MK., Free PMC Article | 07/30/2022 |
| NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.", trans "NEXMIF2. | 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., Free PMC Article | 07/30/2022 |
| NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent. | NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Langley E, Farach LS, Koenig MK, Northrup H, Rodriguez-Buritica DF, Mowrey K., Free PMC Article | 05/21/2022 |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | 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. | 07/10/2021 |
| Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients. | 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. | 06/26/2021 |
| Clinical spectrum of KIAA2022 pathogenic variants in males.[review] | 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. | 05/25/2019 |
| This study supports KIAA2022 as a novel cause of X-linked dominant intellectual disability, and broadens the phenotype for KIAA2022 mutations. | 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. | 03/23/2019 |
| This is a study of the novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. | 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. | 10/13/2018 |
| Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. | 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., Free PMC Article | 08/26/2017 |
| Two unrelated patients with X-linked intellectual disability found having the KIAA2022 mutation phenotype. | 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. | 02/20/2016 |
| Xpn regulates cell-cell and cell-matrix adhesion and cellular migration by regulating the expression of adhesion molecules | XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
Magome T, Hattori T, Taniguchi M, Ishikawa T, Miyata S, Yamada K, Takamura H, Matsuzaki S, Ito A, Tohyama M, Katayama T. | 06/27/2015 |
| study describes 3 new families with likely pathogenic mutations of KIAA2022 and further defined clinical and genetic phenotypes; role of KIAA2022 in neuronal development, together with the clinical features of patients observed, provides evidence that KIAA2022 is essential for proper brain development | 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., Free PMC Article | 02/8/2014 |
| disrupted in X-linked mental retardation | Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L., Free PMC Article | 01/21/2010 |