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 *

130 related articles for article (PubMed ID: 38183824)

  • 21. 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]  

  • 22. 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]  

  • 23. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy.
    Lee S; Kim BR; Kim YO
    Sci Prog; 2022; 105(4):368504221131233. PubMed ID: 36217831
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.
    Stenshorne I; Syvertsen M; Ramm-Pettersen A; Henning S; Weatherup E; Bjørnstad A; Brüggemann N; Spetalen T; Selmer KK; Koht J
    Front Pediatr; 2022; 10():965282. PubMed ID: 35979408
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
    Carvill GL; Liu A; Mandelstam S; Schneider A; Lacroix A; Zemel M; McMahon JM; Bello-Espinosa L; Mackay M; Wallace G; Waak M; Zhang J; Yang X; Malone S; Zhang YH; Mefford HC; Scheffer IE
    Epilepsia; 2018 Jan; 59(1):e5-e13. PubMed ID: 29171013
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 28. PEHO syndrome: the endpoint of different genetic epilepsies.
    Chitre M; Nahorski MS; Stouffer K; Dunning-Davies B; Houston H; Wakeling EL; Brady AF; Zuberi SM; Suri M; Parker APJ; Woods CG
    J Med Genet; 2018 Dec; 55(12):803-813. PubMed ID: 30287594
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
    Goto A; Ishii A; Shibata M; Ihara Y; Cooper EC; Hirose S
    Epilepsia; 2019 Sep; 60(9):1870-1880. PubMed ID: 31418850
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Myoclonus and epilepsies in children].
    Fejerman N
    Rev Neurol (Paris); 1991; 147(12):782-97. PubMed ID: 1780607
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
    Dilber C; Yücel G; Şahin Y
    Clin Neurol Neurosurg; 2022 Dec; 223():107509. PubMed ID: 36356440
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
    Hieu NLT; Thu NTM; Ngan LTA; Van LTK; Huy DP; Linh PTT; Mai NTQ; Hien HTD; Hang DTT
    Am J Med Genet A; 2022 Jul; 188(7):2048-2060. PubMed ID: 35365919
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [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; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 34. [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; 58(2):118-122. PubMed ID: 32102148
    [No Abstract]   [Full Text] [Related]  

  • 35. [Genetically determined epileptic encephalopathies].
    Appendino JP; Appendino JI
    Medicina (B Aires); 2019; 79 Suppl 3():42-47. PubMed ID: 31603843
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic and clinical variations of developmental epileptic encephalopathies.
    Kaya Özçora GD; Söbü E; Gümüş U
    Neurol Res; 2023 Mar; 45(3):226-233. PubMed ID: 36731496
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.
    Juanes M; Veneruzzo G; Loos M; Reyes G; Araoz HV; Garcia FM; Gomez G; Alonso CN; Chertkoff LP; Caraballo R
    Epilepsy Behav; 2020 Oct; 111():107322. PubMed ID: 32702657
    [TBL] [Abstract][Full Text] [Related]  

  • 38. ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.
    Moriyama K; Mizuno T; Suzuki T; Inaji M; Maehara T; Fujita A; Kato M; Matsumoto N
    Brain Dev; 2023 Jan; 45(1):77-81. PubMed ID: 36114075
    [TBL] [Abstract][Full Text] [Related]  

  • 39. West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
    Kalra V; Gulati S; Pandey RM; Menon S
    Brain Dev; 2002 Mar; 24(2):130-9. PubMed ID: 11891107
    [TBL] [Abstract][Full Text] [Related]  

  • 40. West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
    Kalra V; Gulati S; Pandey RM; Menon S
    Brain Dev; 2001 Nov; 23(7):593-602. PubMed ID: 11701262
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.