BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

592 related articles for article (PubMed ID: 33951195)

  • 1. 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; 62(6):1401-1415. PubMed ID: 33951195
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
    Rossi J; Russo M; Gobbi G; Terracciano A; Zuntini R; Giuseppe Caraffi S; Novelli A; Garavelli L; Valzania F; Rizzi R
    Brain Dev; 2023 Sep; 45(8):445-450. PubMed ID: 37271660
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Defining the phenotypic spectrum of SLC6A1 mutations.
    Johannesen KM; Gardella E; Linnankivi T; Courage C; de Saint Martin A; Lehesjoki AE; Mignot C; Afenjar A; Lesca G; Abi-Warde MT; Chelly J; Piton A; Merritt JL; Rodan LH; Tan WH; Bird LM; Nespeca M; Gleeson JG; Yoo Y; Choi M; Chae JH; Czapansky-Beilman D; Reichert SC; Pendziwiat M; Verhoeven JS; Schelhaas HJ; Devinsky O; Christensen J; Specchio N; Trivisano M; Weber YG; Nava C; Keren B; Doummar D; Schaefer E; Hopkins S; Dubbs H; Shaw JE; Pisani L; Myers CT; Tang S; Tang S; Pal DK; Millichap JJ; Carvill GL; Helbig KL; Mecarelli O; Striano P; Helbig I; Rubboli G; Mefford HC; Møller RS
    Epilepsia; 2018 Feb; 59(2):389-402. PubMed ID: 29315614
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
    Marini C; Porro A; Rastetter A; Dalle C; Rivolta I; Bauer D; Oegema R; Nava C; Parrini E; Mei D; Mercer C; Dhamija R; Chambers C; Coubes C; Thévenon J; Kuentz P; Julia S; Pasquier L; Dubourg C; Carré W; Rosati A; Melani F; Pisano T; Giardino M; Innes AM; Alembik Y; Scheidecker S; Santos M; Figueiroa S; Garrido C; Fusco C; Frattini D; Spagnoli C; Binda A; Granata T; Ragona F; Freri E; Franceschetti S; Canafoglia L; Castellotti B; Gellera C; Milanesi R; Mancardi MM; Clark DR; Kok F; Helbig KL; Ichikawa S; Sadler L; Neupauerová J; Laššuthova P; Šterbová K; Laridon A; Brilstra E; Koeleman B; Lemke JR; Zara F; Striano P; Soblet J; Smits G; Deconinck N; Barbuti A; DiFrancesco D; LeGuern E; Guerrini R; Santoro B; Hamacher K; Thiel G; Moroni A; DiFrancesco JC; Depienne C
    Brain; 2018 Nov; 141(11):3160-3178. PubMed ID: 30351409
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
    Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Clinical spectrum of
    Wolking S; May P; Mei D; Møller RS; Balestrini S; Helbig KL; Altuzarra CD; Chatron N; Kaiwar C; Stöhr K; Widdess-Walsh P; Mendelsohn BA; Numis A; Cilio MR; Van Paesschen W; Svendsen LL; Oates S; Hughes E; Goyal S; Brown K; Sifuentes Saenz M; Dorn T; Muhle H; Pagnamenta AT; Vavoulis DV; Knight SJL; Taylor JC; Canevini MP; Darra F; Gavrilova RH; Powis Z; Tang S; Marquetand J; Armstrong M; McHale D; Klee EW; Kluger GJ; Lowenstein DH; Weckhuysen S; Pal DK; Helbig I; Guerrini R; Thomas RH; Rees MI; Lesca G; Sisodiya SM; Weber YG; Lal D; Marini C; Lerche H; Schubert J
    Neurology; 2019 Mar; 92(11):e1238-e1249. PubMed ID: 30737342
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel variants in the
    Li S; Zhang W; Liang P; Zhu M; Zheng B; Zhou W; Wang C; Zhao X
    Front Neurol; 2023; 14():1096969. PubMed ID: 37789889
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    Datta AN; Bahi-Buisson N; Bienvenu T; Buerki SE; Gardiner F; Cross JH; Heron B; Kaminska A; Korff CM; Lepine A; Lesca G; McTague A; Mefford HC; Mignot C; Milh M; Piton A; Pressler RM; Ruf S; Sadleir LG; de Saint Martin A; Van Gassen K; Verbeek NE; Ville D; Villeneuve N; Zacher P; Scheffer IE; Lemke JR
    Epilepsia; 2021 Feb; 62(2):325-334. PubMed ID: 33410528
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
    Komulainen-Ebrahim J; Schreiber JM; Kangas SM; Pylkäs K; Suo-Palosaari M; Rahikkala E; Liinamaa J; Immonen EV; Hassinen I; Myllynen P; Rantala H; Hinttala R; Uusimaa J
    Seizure; 2019 Jul; 69():99-104. PubMed ID: 31004928
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
    Xu X; Lu F; Zhang L; Li H; Du S; Tang J
    BMC Pediatr; 2021 Sep; 21(1):384. PubMed ID: 34479510
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 30.