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543 related items for PubMed ID: 33280099

  • 1. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
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  • 3. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR.
    Epilepsia; 2021 Feb; 62(2):325-334. PubMed ID: 33410528
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  • 5. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M, De Dominicis A, Micalizzi A, Ferretti A, Dentici ML, Terracciano A, Calabrese C, Vigevano F, Novelli G, Novelli A, Specchio N.
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
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  • 7. Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy.
    Sano K, Miya F, Kato M, Omata T, Takanashi JI.
    Brain Dev; 2023 Nov; 45(10):583-587. PubMed ID: 37543484
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  • 8. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
    Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
    Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
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  • 15. 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; 61(11):2461-2473. PubMed ID: 32954514
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  • 16. PIGN encephalopathy: Characterizing the epileptology.
    Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG.
    Epilepsia; 2022 Apr; 63(4):974-991. PubMed ID: 35179230
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  • 17. 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 Apr; 10():35. PubMed ID: 31649809
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  • 18. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
    Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T.
    Clin Genet; 2018 Feb; 93(2):368-373. PubMed ID: 28589569
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  • 19. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
    Dzinovic I, Škorvánek M, Necpál J, Boesch S, Švantnerová J, Wagner M, Havránková P, Pavelekova P, Haň V, Janzarik WG, Berweck S, Diebold I, Kuster A, Jech R, Winkelmann J, Zech M.
    Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
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  • 20. Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
    Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    Brain Dev; 2019 May; 41(5):452-455. PubMed ID: 30635136
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