BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

658 related articles for article (PubMed ID: 25623524)

  • 1. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
    Baulac S; Ishida S; Marsan E; Miquel C; Biraben A; Nguyen DK; Nordli D; Cossette P; Nguyen S; Lambrecq V; Vlaicu M; Daniau M; Bielle F; Andermann E; Andermann F; Leguern E; Chassoux F; Picard F
    Ann Neurol; 2015 Apr; 77(4):675-83. PubMed ID: 25623524
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
    Ribierre T; Deleuze C; Bacq A; Baldassari S; Marsan E; Chipaux M; Muraca G; Roussel D; Navarro V; Leguern E; Miles R; Baulac S
    J Clin Invest; 2018 Jun; 128(6):2452-2458. PubMed ID: 29708508
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
    Scheffer IE; Heron SE; Regan BM; Mandelstam S; Crompton DE; Hodgson BL; Licchetta L; Provini F; Bisulli F; Vadlamudi L; Gecz J; Connelly A; Tinuper P; Ricos MG; Berkovic SF; Dibbens LM
    Ann Neurol; 2014 May; 75(5):782-7. PubMed ID: 24585383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
    Weckhuysen S; Marsan E; Lambrecq V; Marchal C; Morin-Brureau M; An-Gourfinkel I; Baulac M; Fohlen M; Kallay Zetchi C; Seeck M; de la Grange P; Dermaut B; Meurs A; Thomas P; Chassoux F; Leguern E; Picard F; Baulac S
    Epilepsia; 2016 Jun; 57(6):994-1003. PubMed ID: 27173016
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy.
    Ying Z; Wang I; Blümcke I; Bulacio J; Alexopoulos A; Jehi L; Bingaman W; Gonzalez-Martinez J; Kobow K; Niestroj LM; Lal D; Koelble K; Najm I
    Epileptic Disord; 2019 Feb; 21(1):65-77. PubMed ID: 30782578
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
    Martin C; Meloche C; Rioux MF; Nguyen DK; Carmant L; Andermann E; Gravel M; Cossette P
    Clin Genet; 2014 Dec; 86(6):570-4. PubMed ID: 24283814
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DEPDC5 mutations in familial and sporadic focal epilepsy.
    Tsai MH; Chan CK; Chang YC; Yu YT; Chuang ST; Fan WL; Li SC; Fu TY; Chang WN; Liou CW; Chuang YC; Ng CC; Hwang DY; Lim KS
    Clin Genet; 2017 Oct; 92(4):397-404. PubMed ID: 28170089
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
    D'Gama AM; Geng Y; Couto JA; Martin B; Boyle EA; LaCoursiere CM; Hossain A; Hatem NE; Barry BJ; Kwiatkowski DJ; Vinters HV; Barkovich AJ; Shendure J; Mathern GW; Walsh CA; Poduri A
    Ann Neurol; 2015 Apr; 77(4):720-5. PubMed ID: 25599672
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
    Baulac S
    Prog Brain Res; 2014; 213():123-39. PubMed ID: 25194487
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
    Dibbens LM; de Vries B; Donatello S; Heron SE; Hodgson BL; Chintawar S; Crompton DE; Hughes JN; Bellows ST; Klein KM; Callenbach PM; Corbett MA; Gardner AE; Kivity S; Iona X; Regan BM; Weller CM; Crimmins D; O'Brien TJ; Guerrero-López R; Mulley JC; Dubeau F; Licchetta L; Bisulli F; Cossette P; Thomas PQ; Gecz J; Serratosa J; Brouwer OF; Andermann F; Andermann E; van den Maagdenberg AM; Pandolfo M; Berkovic SF; Scheffer IE
    Nat Genet; 2013 May; 45(5):546-51. PubMed ID: 23542697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epilepsy surgery of focal cortical dysplasia-associated tumors.
    Cossu M; Fuschillo D; Bramerio M; Galli C; Gozzo F; Pelliccia V; Casaceli G; Tassi L; Lo Russo G
    Epilepsia; 2013 Dec; 54 Suppl 9():115-22. PubMed ID: 24328884
    [TBL] [Abstract][Full Text] [Related]  

  • 12. DEPDC5 takes a second hit in familial focal epilepsy.
    Anderson MP
    J Clin Invest; 2018 Jun; 128(6):2194-2196. PubMed ID: 29708509
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
    Picard F; Makrythanasis P; Navarro V; Ishida S; de Bellescize J; Ville D; Weckhuysen S; Fosselle E; Suls A; De Jonghe P; Vasselon Raina M; Lesca G; Depienne C; An-Gourfinkel I; Vlaicu M; Baulac M; Mundwiller E; Couarch P; Combi R; Ferini-Strambi L; Gambardella A; Antonarakis SE; Leguern E; Steinlein O; Baulac S
    Neurology; 2014 Jun; 82(23):2101-6. PubMed ID: 24814846
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
    Benova B; Sanders MWCB; Uhrova-Meszarosova A; Belohlavkova A; Hermanovska B; Novak V; Stanek D; Vlckova M; Zamecnik J; Aronica E; Braun KPJ; Koeleman BPC; Jansen FE; Krsek P
    Eur J Paediatr Neurol; 2021 Jan; 30():88-96. PubMed ID: 33461085
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
    Nakashima M; Saitsu H; Takei N; Tohyama J; Kato M; Kitaura H; Shiina M; Shirozu H; Masuda H; Watanabe K; Ohba C; Tsurusaki Y; Miyake N; Zheng Y; Sato T; Takebayashi H; Ogata K; Kameyama S; Kakita A; Matsumoto N
    Ann Neurol; 2015 Sep; 78(3):375-86. PubMed ID: 26018084
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
    Sim JC; Scerri T; Fanjul-Fernández M; Riseley JR; Gillies G; Pope K; van Roozendaal H; Heng JI; Mandelstam SA; McGillivray G; MacGregor D; Kannan L; Maixner W; Harvey AS; Amor DJ; Delatycki MB; Crino PB; Bahlo M; Lockhart PJ; Leventer RJ
    Ann Neurol; 2016 Jan; 79(1):132-7. PubMed ID: 26285051
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
    Baldassari S; Ribierre T; Marsan E; Adle-Biassette H; Ferrand-Sorbets S; Bulteau C; Dorison N; Fohlen M; Polivka M; Weckhuysen S; Dorfmüller G; Chipaux M; Baulac S
    Acta Neuropathol; 2019 Dec; 138(6):885-900. PubMed ID: 31444548
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pearls & Oy-sters: Harnessing New Diagnostic and Therapeutic Approaches to Treat a Patient With Genetic Drug-Resistant Focal Epilepsy.
    Khan A; Middlebrooks EH; Javarayee P; Tatum WO; Sanchez Bolurate SS; Grewal SS; Feyissa AM
    Neurology; 2023 May; 100(21):1020-1024. PubMed ID: 36697241
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.
    Ferri L; Bisulli F; Mai R; Licchetta L; Leta C; Nobili L; Mostacci B; Pippucci T; Tinuper P
    Seizure; 2017 Dec; 53():51-54. PubMed ID: 29125946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
    Ricos MG; Hodgson BL; Pippucci T; Saidin A; Ong YS; Heron SE; Licchetta L; Bisulli F; Bayly MA; Hughes J; Baldassari S; Palombo F; ; Santucci M; Meletti S; Berkovic SF; Rubboli G; Thomas PQ; Scheffer IE; Tinuper P; Geoghegan J; Schreiber AW; Dibbens LM
    Ann Neurol; 2016 Jan; 79(1):120-31. PubMed ID: 26505888
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.