These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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]
3. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Yuskaitis CJ; Jones BM; Wolfson RL; Super CE; Dhamne SC; Rotenberg A; Sabatini DM; Sahin M; Poduri A Neurobiol Dis; 2018 Mar; 111():91-101. PubMed ID: 29274432 [TBL] [Abstract][Full Text] [Related]
4. Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy. Dawson RE; Nieto Guil AF; Robertson LJ; Piltz SG; Hughes JN; Thomas PQ Neurobiol Dis; 2020 Feb; 134():104640. PubMed ID: 31639411 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis. De Fusco A; Cerullo MS; Marte A; Michetti C; Romei A; Castroflorio E; Baulac S; Benfenati F Neurobiol Dis; 2020 Jun; 139():104822. PubMed ID: 32113911 [TBL] [Abstract][Full Text] [Related]
8. Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Lee WS; Stephenson SEM; Howell KB; Pope K; Gillies G; Wray A; Maixner W; Mandelstam SA; Berkovic SF; Scheffer IE; MacGregor D; Harvey AS; Lockhart PJ; Leventer RJ Ann Clin Transl Neurol; 2019 Jul; 6(7):1338-1344. PubMed ID: 31353856 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons. Klofas LK; Short BP; Snow JP; Sinnaeve J; Rushing GV; Westlake G; Weinstein W; Ihrie RA; Ess KC; Carson RP Neurobiol Dis; 2020 Sep; 143():104975. PubMed ID: 32574724 [TBL] [Abstract][Full Text] [Related]
12. Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1. Klofas LK; Short BP; Zhou C; Carson RP Hum Mol Genet; 2020 May; 29(8):1365-1377. PubMed ID: 32280987 [TBL] [Abstract][Full Text] [Related]
13. Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy. Bacq A; Roussel D; Bonduelle T; Zagaglia S; Maletic M; Ribierre T; Adle-Biassette H; Marchal C; Jennesson M; An I; ; Picard F; Navarro V; Sisodiya SM; Baulac S Ann Neurol; 2022 Jan; 91(1):101-116. PubMed ID: 34693554 [TBL] [Abstract][Full Text] [Related]
14. The landscape of epilepsy-related GATOR1 variants. Baldassari S; Picard F; Verbeek NE; van Kempen M; Brilstra EH; Lesca G; Conti V; Guerrini R; Bisulli F; Licchetta L; Pippucci T; Tinuper P; Hirsch E; de Saint Martin A; Chelly J; Rudolf G; Chipaux M; Ferrand-Sorbets S; Dorfmüller G; Sisodiya S; Balestrini S; Schoeler N; Hernandez-Hernandez L; Krithika S; Oegema R; Hagebeuk E; Gunning B; Deckers C; Berghuis B; Wegner I; Niks E; Jansen FE; Braun K; de Jong D; Rubboli G; Talvik I; Sander V; Uldall P; Jacquemont ML; Nava C; Leguern E; Julia S; Gambardella A; d'Orsi G; Crichiutti G; Faivre L; Darmency V; Benova B; Krsek P; Biraben A; Lebre AS; Jennesson M; Sattar S; Marchal C; Nordli DR; Lindstrom K; Striano P; Lomax LB; Kiss C; Bartolomei F; Lepine AF; Schoonjans AS; Stouffs K; Jansen A; Panagiotakaki E; Ricard-Mousnier B; Thevenon J; de Bellescize J; Catenoix H; Dorn T; Zenker M; Müller-Schlüter K; Brandt C; Krey I; Polster T; Wolff M; Balci M; Rostasy K; Achaz G; Zacher P; Becher T; Cloppenborg T; Yuskaitis CJ; Weckhuysen S; Poduri A; Lemke JR; Møller RS; Baulac S Genet Med; 2019 Feb; 21(2):398-408. PubMed ID: 30093711 [TBL] [Abstract][Full Text] [Related]
15. DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons. Iffland PH; Baybis M; Barnes AE; Leventer RJ; Lockhart PJ; Crino PB Neurobiol Dis; 2018 Jun; 114():184-193. PubMed ID: 29481864 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy. Kao HY; Yao Y; Yang T; Ziobro J; Zylinski M; Mir MY; Hu S; Cao R; Borna NN; Banerjee R; Parent JM; Wang S; Leventhal DK; Li P; Wang Y Ann Neurol; 2023 Nov; 94(5):812-824. PubMed ID: 37606181 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Iffland PH; Carson V; Bordey A; Crino PB Epilepsia; 2019 Nov; 60(11):2163-2173. PubMed ID: 31625153 [TBL] [Abstract][Full Text] [Related]