BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 37606373)

  • 1. GABRA1-Related Disorders: From Genetic to Functional Pathways.
    Musto E; Liao VWY; Johannesen KM; Fenger CD; Lederer D; Kothur K; Fisk K; Bennetts B; Vrielynck P; Delaby D; Ceulemans B; Weckhuysen S; Sparber P; Bouman A; Ardern-Holmes S; Troedson C; Battaglia DI; Goel H; Feyma T; Bakhtiari S; Tjoa L; Boxill M; Demina N; Shchagina O; Dadali E; Kruer M; Cantalupo G; Contaldo I; Polster T; Isidor B; Bova SM; Fazeli W; Wouters L; Miranda MJ; Darra F; Pede E; Le Duc D; Jamra RA; Küry S; Proietti J; McSweeney N; Brokamp E; Andrews PI; Gouray Garcia M; Chebib M; Møller RS; Ahring PK; Gardella E
    Ann Neurol; 2023 Aug; ():. PubMed ID: 37606373
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The genotype-phenotype correlations of the
    Kessi M; Chen B; Pang N; Yang L; Peng J; He F; Yin F
    Front Mol Neurosci; 2023; 16():1222321. PubMed ID: 37555011
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4.
    Liu WH; Luo S; Zhang DM; Lin ZS; Lan S; Li X; Shi YW; Su T; Yi YH; Zhou P; Li BM
    Front Mol Neurosci; 2023; 16():1321090. PubMed ID: 38269327
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular and clinical descriptions of patients with GABA
    Maillard PY; Baer S; Schaefer É; Desnous B; Villeneuve N; Lépine A; Fabre A; Lacoste C; El Chehadeh S; Piton A; Porter LF; Perriard C; Wardé MA; Spitz MA; Laugel V; Lesca G; Putoux A; Ville D; Mignot C; Héron D; Nabbout R; Barcia G; Rio M; Roubertie A; Meyer P; Paquis-Flucklinger V; Patat O; Lefranc J; Gerard M; ; de Bellescize J; Villard L; De Saint Martin A; Milh M
    Epilepsia; 2022 Oct; 63(10):2519-2533. PubMed ID: 35718920
    [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. Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
    Chung KM; Hack J; Andrews J; Galindo-Kelly M; Schreiber J; Watkins J; Hammer MF
    Epilepsia; 2023 Dec; 64(12):3365-3376. PubMed ID: 37585367
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity.
    Olivotto S; Freddi A; Lavatelli R; Basso E; Leidi A; Castellotti B; Spaccini L; Bova SM; Veggiotti P
    Epilepsy Behav Rep; 2022; 19():100544. PubMed ID: 35520951
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Distinguishing Loss-of-Function and Gain-of-Function
    Hack JB; Horning K; Juroske Short DM; Schreiber JM; Watkins JC; Hammer MF
    Neurol Genet; 2023 Jun; 9(3):e200060. PubMed ID: 37152443
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
    Krenn M; Ernst M; Tomschik M; Treven M; Wagner M; Westphal DS; Meitinger T; Pataraia E; Zimprich F; Aull-Watschinger S
    Ann Clin Transl Neurol; 2019 Nov; 6(11):2317-2322. PubMed ID: 31568673
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo GABRA1 mutations in Ohtahara and West syndromes.
    Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
    Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S
    Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
    Happ HC; Sadleir LG; Zemel M; de Valles-Ibáñez G; Hildebrand MS; McConkie-Rosell A; McDonald M; May H; Sands T; Aggarwal V; Elder C; Feyma T; Bayat A; Møller RS; Fenger CD; Klint Nielsen JE; Datta AN; Gorman KM; King MD; Linhares ND; Burton BK; Paras A; Ellard S; Rankin J; Shukla A; Majethia P; Olson RJ; Muthusamy K; Schimmenti LA; Starnes K; Sedláčková L; Štěrbová K; Vlčková M; Laššuthová P; Jahodová A; Porter BE; Couque N; Colin E; Prouteau C; Collet C; Smol T; Caumes R; Vansenne F; Bisulli F; Licchetta L; Person R; Torti E; McWalter K; Webster R; Gerard EE; Lesca G; Szepetowski P; Scheffer IE; Mefford HC; Carvill GL
    Neurology; 2023 Feb; 100(6):e603-e615. PubMed ID: 36307226
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.
    Arslan A
    Heliyon; 2023 Sep; 9(9):e20218. PubMed ID: 37809401
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Zhang L; Wen Y; Zhang Q; Chen Y; Wang J; Shi K; Du L; Bao X
    Front Pediatr; 2020; 8():577544. PubMed ID: 33425808
    [No Abstract]   [Full Text] [Related]  

  • 20. Autism and developmental disability caused by KCNQ3 gain-of-function variants.
    Sands TT; Miceli F; Lesca G; Beck AE; Sadleir LG; Arrington DK; Schönewolf-Greulich B; Moutton S; Lauritano A; Nappi P; Soldovieri MV; Scheffer IE; Mefford HC; Stong N; Heinzen EL; Goldstein DB; Perez AG; Kossoff EH; Stocco A; Sullivan JA; Shashi V; Gerard B; Francannet C; Bisgaard AM; Tümer Z; Willems M; Rivier F; Vitobello A; Thakkar K; Rajan DS; Barkovich AJ; Weckhuysen S; Cooper EC; Taglialatela M; Cilio MR
    Ann Neurol; 2019 Aug; 86(2):181-192. PubMed ID: 31177578
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.