BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

910 related articles for article (PubMed ID: 29053855)

  • 1. 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]  

  • 2. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
    El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
    Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
    Bamborschke D; Pergande M; Daimagüler HS; Mangold E; Dötsch J; Herkenrath P; Cirak S; Fazeli W
    Neuropediatrics; 2019 Dec; 50(6):378-381. PubMed ID: 31319422
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
    Butler KM; Moody OA; Schuler E; Coryell J; Alexander JJ; Jenkins A; Escayg A
    Brain; 2018 Aug; 141(8):2392-2405. PubMed ID: 29961870
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
    Johannesen K; Marini C; Pfeffer S; Møller RS; Dorn T; Niturad CE; Gardella E; Weber Y; Søndergård M; Hjalgrim H; Nikanorova M; Becker F; Larsen LH; Dahl HA; Maier O; Mei D; Biskup S; Klein KM; Reif PS; Rosenow F; Elias AF; Hudson C; Helbig KL; Schubert-Bast S; Scordo MR; Craiu D; Djémié T; Hoffman-Zacharska D; Caglayan H; Helbig I; Serratosa J; Striano P; De Jonghe P; Weckhuysen S; Suls A; Muru K; Talvik I; Talvik T; Muhle H; Borggraefe I; Rost I; Guerrini R; Lerche H; Lemke JR; Rubboli G; Maljevic S
    Neurology; 2016 Sep; 87(11):1140-51. PubMed ID: 27521439
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
    Møller RS; Wuttke TV; Helbig I; Marini C; Johannesen KM; Brilstra EH; Vaher U; Borggraefe I; Talvik I; Talvik T; Kluger G; Francois LL; Lesca G; de Bellescize J; Blichfeldt S; Chatron N; Holert N; Jacobs J; Swinkels M; Betzler C; Syrbe S; Nikanorova M; Myers CT; Larsen LH; Vejzovic S; Pendziwiat M; von Spiczak S; Hopkins S; Dubbs H; Mang Y; Mukhin K; Holthausen H; van Gassen KL; Dahl HA; Tommerup N; Mefford HC; Rubboli G; Guerrini R; Lemke JR; Lerche H; Muhle H; Maljevic S
    Neurology; 2017 Jan; 88(5):483-492. PubMed ID: 28053010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Rare variants in the GABA
    Markus F; Angelini C; Trimouille A; Rudolf G; Lesca G; Goizet C; Lasseaux E; Arveiler B; van Slegtenhorst M; Brooks AS; Abou Jamra R; Korenke GC; Neidhardt J; Owczarek-Lipska M
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1388. PubMed ID: 32588540
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
    Wengert ER; Tronhjem CE; Wagnon JL; Johannesen KM; Petit H; Krey I; Saga AU; Panchal PS; Strohm SM; Lange J; Kamphausen SB; Rubboli G; Lemke JR; Gardella E; Patel MK; Meisler MH; Møller RS
    Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
    Hernandez CC; XiangWei W; Hu N; Shen D; Shen W; Lagrange AH; Zhang Y; Dai L; Ding C; Sun Z; Hu J; Zhu H; Jiang Y; Macdonald RL
    Brain; 2019 Jul; 142(7):1938-1954. PubMed ID: 31056671
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic and molecular insights into CASK-related disorders in males.
    Moog U; Bierhals T; Brand K; Bautsch J; Biskup S; Brune T; Denecke J; de Die-Smulders CE; Evers C; Hempel M; Henneke M; Yntema H; Menten B; Pietz J; Pfundt R; Schmidtke J; Steinemann D; Stumpel CT; Van Maldergem L; Kutsche K
    Orphanet J Rare Dis; 2015 Apr; 10():44. PubMed ID: 25886057
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
    Shi YW; Zhang Q; Cai K; Poliquin S; Shen W; Winters N; Yi YH; Wang J; Hu N; Macdonald RL; Liao WP; Kang JQ
    Brain; 2019 Oct; 142(10):3028-3044. PubMed ID: 31435640
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
    O'Rawe JA; Wu Y; Dörfel MJ; Rope AF; Au PY; Parboosingh JS; Moon S; Kousi M; Kosma K; Smith CS; Tzetis M; Schuette JL; Hufnagel RB; Prada CE; Martinez F; Orellana C; Crain J; Caro-Llopis A; Oltra S; Monfort S; Jiménez-Barrón LT; Swensen J; Ellingwood S; Smith R; Fang H; Ospina S; Stegmann S; Den Hollander N; Mittelman D; Highnam G; Robison R; Yang E; Faivre L; Roubertie A; Rivière JB; Monaghan KG; Wang K; Davis EE; Katsanis N; Kalscheuer VM; Wang EH; Metcalfe K; Kleefstra T; Innes AM; Kitsiou-Tzeli S; Rosello M; Keegan CE; Lyon GJ
    Am J Hum Genet; 2015 Dec; 97(6):922-32. PubMed ID: 26637982
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 46.