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Journal Abstract Search

329 related items for PubMed ID: 33144681

  • 21. 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]

  • 22. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A.
    Mol Autism; 2021 Oct 26; 12(1):69. PubMed ID: 34702355
    [Abstract] [Full Text] [Related]

  • 23. 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 26; 7(1):170-180. PubMed ID: 34717047
    [Abstract] [Full Text] [Related]

  • 24. 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 26; 65(11):3303-3323. PubMed ID: 39348199
    [Abstract] [Full Text] [Related]

  • 25. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
    Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
    Genet Med; 2019 Apr 26; 21(4):837-849. PubMed ID: 30206421
    [Abstract] [Full Text] [Related]

  • 26. 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 26; 8(2):497-508. PubMed ID: 36896643
    [Abstract] [Full Text] [Related]

  • 27. Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.
    Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T.
    Epileptic Disord; 2020 Aug 01; 22(4):501-505. PubMed ID: 32723703
    [Abstract] [Full Text] [Related]

  • 28. STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
    Gokce-Samar Z, de Bellescize J, Arzimanoglou A, Putoux A, Chatron N, Lesca G, Portes VD.
    Eur J Med Genet; 2022 Dec 01; 65(12):104636. PubMed ID: 36216271
    [Abstract] [Full Text] [Related]

  • 29. 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 01; 62(1):e13-e21. PubMed ID: 33280099
    [Abstract] [Full Text] [Related]

  • 30. Developmental and epileptic encephalopathies: what we do and do not know.
    Specchio N, Curatolo P.
    Brain; 2021 Feb 12; 144(1):32-43. PubMed ID: 33279965
    [Abstract] [Full Text] [Related]

  • 31. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
    Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE, EuroEPINOMICS RES Consortium.
    Neurology; 2015 Mar 03; 84(9):951-8. PubMed ID: 25672921
    [Abstract] [Full Text] [Related]

  • 32. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F, EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
    Brain; 2017 Nov 01; 140(11):2879-2894. PubMed ID: 29053855
    [Abstract] [Full Text] [Related]

  • 33. Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.
    Wang X, Cui D, Ding C, Chen C, Wang X, Fang F, Jin H, Ren X.
    Genes (Basel); 2022 May 19; 13(5):. PubMed ID: 35627293
    [Abstract] [Full Text] [Related]

  • 34. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Yang Y, Xiangwei W, Zhang X, Xiao J, Chen J, Yang X, Jia T, Yang Z, Jiang Y, Zhang Y.
    Dev Med Child Neurol; 2020 Oct 19; 62(10):1213-1220. PubMed ID: 32686847
    [Abstract] [Full Text] [Related]

  • 35. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
    Barington M, Risom L, Ek J, Uldall P, Ostergaard E.
    Eur J Hum Genet; 2018 Sep 19; 26(9):1388-1391. PubMed ID: 29795476
    [Abstract] [Full Text] [Related]

  • 36. 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 19; 23(2):222-230. PubMed ID: 27550844
    [Abstract] [Full Text] [Related]

  • 37. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
    Hewson S, Puka K, Mercimek-Mahmutoglu S.
    Am J Med Genet A; 2017 Aug 19; 173(8):2226-2230. PubMed ID: 28602030
    [Abstract] [Full Text] [Related]

  • 38. 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 19; 61(7):e71-e78. PubMed ID: 32645220
    [Abstract] [Full Text] [Related]

  • 39. The molecular and phenotypic spectrum of CLCN4-related epilepsy.
    He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T.
    Epilepsia; 2021 Jun 19; 62(6):1401-1415. PubMed ID: 33951195
    [Abstract] [Full Text] [Related]

  • 40. CASK related disorder: Epilepsy and developmental outcome.
    Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L.
    Eur J Paediatr Neurol; 2021 Mar 19; 31():61-69. PubMed ID: 33640666
    [Abstract] [Full Text] [Related]

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