BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 34276763)

  • 1. Case Report: Causative
    Gong P; Jiao X; Yu D; Yang Z
    Front Genet; 2021; 12():649556. PubMed ID: 34276763
    [No Abstract]   [Full Text] [Related]  

  • 2. The Epilepsy of Infancy With Migrating Focal Seizures: Identification of
    Mao X; Bruneau N; Gao Q; Becq H; Jia Z; Xi H; Shu L; Wang H; Szepetowski P; Aniksztejn L
    Front Cell Neurosci; 2020; 14():1. PubMed ID: 32038177
    [TBL] [Abstract][Full Text] [Related]  

  • 3. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
    Bonardi CM; Heyne HO; Fiannacca M; Fitzgerald MP; Gardella E; Gunning B; Olofsson K; Lesca G; Verbeek N; Stamberger H; Striano P; Zara F; Mancardi MM; Nava C; Syrbe S; Buono S; Baulac S; Coppola A; Weckhuysen S; Schoonjans AS; Ceulemans B; Sarret C; Baumgartner T; Muhle H; Portes VD; Toulouse J; Nougues MC; Rossi M; Demarquay G; Ville D; Hirsch E; Maurey H; Willems M; de Bellescize J; Altuzarra CD; Villeneuve N; Bartolomei F; Picard F; Hornemann F; Koolen DA; Kroes HY; Reale C; Fenger CD; Tan WH; Dibbens L; Bearden DR; Møller RS; Rubboli G
    Brain; 2021 Dec; 144(12):3635-3650. PubMed ID: 34114611
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a novel
    Cui F; Wulan T; Zhang Q; Zhang VW; Jiang Y
    Front Genet; 2024; 15():1371282. PubMed ID: 38510274
    [No Abstract]   [Full Text] [Related]  

  • 5. KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
    Cioclu MC; Mosca I; Ambrosino P; Puzo D; Bayat A; Wortmann SB; Koch J; Strehlow V; Shirai K; Matsumoto N; Sanders SJ; Michaud V; Legendre M; Riva A; Striano P; Muhle H; Pendziwiat M; Lesca G; Mangano GD; Nardello R; ; Lemke JR; Møller RS; Soldovieri MV; Rubboli G; Taglialatela M
    Ann Neurol; 2023 Aug; 94(2):332-349. PubMed ID: 37062836
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
    Ambrosino P; Soldovieri MV; Bast T; Turnpenny PD; Uhrig S; Biskup S; Döcker M; Fleck T; Mosca I; Manocchio L; Iraci N; Taglialatela M; Lemke JR
    Ann Neurol; 2018 Jun; 83(6):1198-1204. PubMed ID: 29740868
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
    Dilena R; DiFrancesco JC; Soldovieri MV; Giacobbe A; Ambrosino P; Mosca I; Galli MA; Guez S; Fumagalli M; Miceli F; Cattaneo D; Darra F; Gennaro E; Zara F; Striano P; Castellotti B; Gellera C; Varesio C; Veggiotti P; Taglialatela M
    Neurotherapeutics; 2018 Oct; 15(4):1112-1126. PubMed ID: 30112700
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
    Inuzuka LM; Macedo-Souza LI; Della-Ripa B; Monteiro FP; Ramos L; Kitajima JP; Garzon E; Kok F
    Brain Dev; 2020 Oct; 42(9):691-695. PubMed ID: 32773162
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
    Burgess R; Wang S; McTague A; Boysen KE; Yang X; Zeng Q; Myers KA; Rochtus A; Trivisano M; Gill D; ; Sadleir LG; Specchio N; Guerrini R; Marini C; Zhang YH; Mefford HC; Kurian MA; Poduri AH; Scheffer IE
    Ann Neurol; 2019 Dec; 86(6):821-831. PubMed ID: 31618474
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.
    Assi J; Chyta M; Mavridis I
    Childs Nerv Syst; 2023 Nov; 39(11):3295-3299. PubMed ID: 37368068
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
    Jackson A; Banka S; Stewart H; ; Robinson H; Lovell S; Clayton-Smith J
    Am J Med Genet A; 2021 Oct; 185(10):3083-3091. PubMed ID: 34061450
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo KCNT1 mutations in early-onset epileptic encephalopathy.
    Ohba C; Kato M; Takahashi N; Osaka H; Shiihara T; Tohyama J; Nabatame S; Azuma J; Fujii Y; Hara M; Tsurusawa R; Inoue T; Ogata R; Watanabe Y; Togashi N; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Tanaka F; Saitsu H; Matsumoto N
    Epilepsia; 2015 Sep; 56(9):e121-8. PubMed ID: 26140313
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.
    Duan H; Peng J; Kessi M; Yin F
    Child Neurol Open; 2018; 5():2329048X18767738. PubMed ID: 29687029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
    Masnada S; Hedrich UBS; Gardella E; Schubert J; Kaiwar C; Klee EW; Lanpher BC; Gavrilova RH; Synofzik M; Bast T; Gorman K; King MD; Allen NM; Conroy J; Ben Zeev B; Tzadok M; Korff C; Dubois F; Ramsey K; Narayanan V; Serratosa JM; Giraldez BG; Helbig I; Marsh E; O'Brien M; Bergqvist CA; Binelli A; Porter B; Zaeyen E; Horovitz DD; Wolff M; Marjanovic D; Caglayan HS; Arslan M; Pena SDJ; Sisodiya SM; Balestrini S; Syrbe S; Veggiotti P; Lemke JR; Møller RS; Lerche H; Rubboli G
    Brain; 2017 Sep; 140(9):2337-2354. PubMed ID: 29050392
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].
    Kholin AA; Zavadenko NN; Fedonyuk ID; Antonets AV; Mukhin KY; Malov AG; Vshivkov MI; Anisimov GV; Il'ina ES
    Zh Nevrol Psikhiatr Im S S Korsakova; 2019; 119(7. Vyp. 2):74-82. PubMed ID: 31532594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).
    Guerrero CM; Bhatia S
    J Pediatr Neurosci; 2021; 16(4):323-326. PubMed ID: 36531778
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
    Howell KB; McMahon JM; Carvill GL; Tambunan D; Mackay MT; Rodriguez-Casero V; Webster R; Clark D; Freeman JL; Calvert S; Olson HE; Mandelstam S; Poduri A; Mefford HC; Harvey AS; Scheffer IE
    Neurology; 2015 Sep; 85(11):958-66. PubMed ID: 26291284
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
    Takeguchi R; Haginoya K; Uchiyama Y; Fujita A; Nagura M; Takeshita E; Inui T; Okubo Y; Sato R; Miyabayashi T; Togashi N; Saito T; Nakagawa E; Sugai K; Nakashima M; Saitsu H; Matsumoto N; Sasaki M
    Brain Dev; 2018 Sep; 40(8):728-732. PubMed ID: 29699863
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A
    Cell Rep; 2017 Oct; 21(4):926-933. PubMed ID: 29069600
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.