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329 related items for PubMed ID: 33144681

  • 1. 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; 23(2):363-373. PubMed ID: 33144681
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  • 3. 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; 116():93-99. PubMed ID: 37643945
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  • 4. 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
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  • 5. 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
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  • 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
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  • 7. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
    Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.
    Neurology; 2019 Jan 08; 92(2):e96-e107. PubMed ID: 30541864
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  • 12. 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 08; 53(12):850-858. PubMed ID: 27358180
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  • 13. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
    Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M, EuroEPINOMICS-RES Consortium, Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK.
    Epilepsia; 2020 May 08; 61(5):995-1007. PubMed ID: 32469098
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  • 14. 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 08; 182(11):2765-2772. PubMed ID: 32924309
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  • 15. NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.
    Gilbert J, O'Connor M, Templet S, Moghaddam M, Di Via Ioschpe A, Sinclair A, Zhu LQ, Xu W, Man HY.
    J Neurosci; 2020 Jan 02; 40(1):237-254. PubMed ID: 31704787
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  • 18. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
    Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R.
    Epilepsia; 2020 Nov 02; 61(11):2461-2473. PubMed ID: 32954514
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  • 19. Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.
    Ogasawara M, Nakagawa E, Takeshita E, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.
    Mol Syndromol; 2020 Nov 02; 11(4):232-237. PubMed ID: 33224018
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  • 20. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
    Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM.
    Epilepsia; 2024 Mar 02; 65(3):779-791. PubMed ID: 38088023
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