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Journal Abstract Search

331 related items for PubMed ID: 35179230

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
    Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE.
    Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245
    [Abstract] [Full Text] [Related]

  • 3. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Miceli F, Soldovieri MV, Weckhuysen S, Cooper E, Taglialatela M.
    ; 1993 Jan. PubMed ID: 20437616
    [Abstract] [Full Text] [Related]

  • 7. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].
    Wang T, Cheng MM, Liu WW, Tan QZ, Liu CH, Yang Y, Yang XL, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2024 Aug 02; 62(8):752-757. PubMed ID: 39039877
    [Abstract] [Full Text] [Related]

  • 8. Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
    Poke G, Stanley J, Scheffer IE, Sadleir LG.
    Neurology; 2023 Mar 28; 100(13):e1363-e1375. PubMed ID: 36581463
    [Abstract] [Full Text] [Related]

  • 9. The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.
    Sahly AN, Srour M, Buhas D, Scheffer IE, Myers KA.
    Eur J Paediatr Neurol; 2023 May 28; 44():46-50. PubMed ID: 37075569
    [Abstract] [Full Text] [Related]

  • 10. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
    Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N.
    Epilepsia; 2020 Jul 28; 61(7):e71-e78. PubMed ID: 32645220
    [Abstract] [Full Text] [Related]

  • 11. 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
    [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 08; 116():93-99. PubMed ID: 37643945
    [Abstract] [Full Text] [Related]

  • 13. POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
    Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM.
    Epilepsia; 2024 Nov 08; 65(11):3303-3323. PubMed ID: 39348199
    [Abstract] [Full Text] [Related]

  • 14. Developmental epileptic encephalopathy in DLG4-related synaptopathy.
    Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G.
    Epilepsia; 2024 Apr 08; 65(4):1029-1045. PubMed ID: 38135915
    [Abstract] [Full Text] [Related]

  • 15. Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
    de Valles-Ibáñez G, Hildebrand MS, Bahlo M, King C, Coleman M, Green TE, Goldsmith J, Davis S, Gill D, Mandelstam S, Scheffer IE, Sadleir LG.
    Epilepsia Open; 2022 Mar 08; 7(1):170-180. PubMed ID: 34717047
    [Abstract] [Full Text] [Related]

  • 16. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
    Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G.
    Ann Neurol; 2018 May 08; 83(5):926-934. PubMed ID: 29630738
    [Abstract] [Full Text] [Related]

  • 17. The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
    von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM.
    Epilepsia Open; 2023 Jun 08; 8(2):497-508. PubMed ID: 36896643
    [Abstract] [Full Text] [Related]

  • 18. Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy.
    Trivisano M, Pavia GC, Ferretti A, Fusco L, Vigevano F, Specchio N.
    Epilepsy Behav; 2019 Jul 08; 96():219-223. PubMed ID: 31174070
    [Abstract] [Full Text] [Related]

  • 19. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P, Xue J, Jiao XR, Zhang YH, Yang ZX.
    Zhonghua Er Ke Za Zhi; 2020 Jan 02; 58(1):35-40. PubMed ID: 31905474
    [Abstract] [Full Text] [Related]

  • 20. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y, Zhang YH, Chen JY, Ma JH, Sun D, Yang XL, Zhang J, Chen Y, Wu XR.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):118-122. PubMed ID: 32102148
    [Abstract] [Full Text] [Related]

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