These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 37075569)

  • 1. 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; 44():46-50. PubMed ID: 37075569
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.
    Kacker S; Phitsanuwong C; Oetomo A; Nordli DR
    Epileptic Disord; 2024 Feb; 26(1):98-108. PubMed ID: 38100275
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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; 100(13):e1363-e1375. PubMed ID: 36581463
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
    Juanes M; Loos M; Reyes G; Veneruzzo G; García FM; Aschettino G; Calligaris S; Martín ME; Foncuberta ME; Alonso CN; Caraballo RH
    Medicina (B Aires); 2022; 82(6):856-865. PubMed ID: 36571524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    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; 92(2):e96-e107. PubMed ID: 30541864
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Electroclinical pattern in the transition from West to Lennox-Gastaut syndrome.
    Calvo A; Buompadre MC; Gallo A; Gutiérrez R; Valenzuela GR; Caraballo R
    Epilepsy Res; 2020 Nov; 167():106446. PubMed ID: 32854045
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
    Shbarou R; Mikati MA
    Semin Pediatr Neurol; 2016 May; 23(2):134-42. PubMed ID: 27544470
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 62(10):1213-1220. PubMed ID: 32686847
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis.
    Kaminska A; Ickowicz A; Plouin P; Bru MF; Dellatolas G; Dulac O
    Epilepsy Res; 1999 Aug; 36(1):15-29. PubMed ID: 10463847
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients.
    Caraballo RH; Fortini S; Reyes G; Carpio Ruiz A; Sanchez Fuentes SV; Ramos B
    Epilepsy Res; 2016 Jul; 123():29-35. PubMed ID: 27082650
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
    Whitney R; Jain P; RamachandranNair R; Jones KC; Kiani H; Tarnopolsky M; Meaney B
    Epilepsia Open; 2023 Jun; 8(2):623-632. PubMed ID: 37067065
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
    Ikeda A; Yamamoto A; Ichikawa K; Tsuyusaki Y; Tsuji M; Iai M; Enomoto Y; Murakami H; Kurosawa K; Miyatake S; Matsumoto N; Goto T
    Epilepsy Behav Rep; 2020; 13():100349. PubMed ID: 31879735
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical features of epilepsies associated with GABRB2 variants].
    Yang Y; Zhang YH; Chen JY; Zhang J; Yang XL; Chen Y; Yang ZX; Wu XR
    Zhonghua Er Ke Za Zhi; 2019 Jul; 57(7):532-537. PubMed ID: 31269553
    [No Abstract]   [Full Text] [Related]  

  • 19. Long-term outcome of developmental and epileptic encephalopathies.
    Van Bogaert P
    Rev Neurol (Paris); 2022 Sep; 178(7):659-665. PubMed ID: 35489823
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
    Luiza Benevides M; de Moraes HT; Granados DMM; Bonadia LC; Sauma L; Augusta Montenegro M; Guerreiro MM; Lopes-Cendes Í; Carolina Coan A
    Epilepsy Behav; 2024 Jun; 155():109762. PubMed ID: 38636144
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.