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Items: 1 to 20 of 93

1.

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC.

Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug.

2.

DEPDC5-Related Epilepsy.

Baulac S, Weckhuysen S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Sep 29.

3.

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. doi: 10.1002/ana.24368. Epub 2015 Mar 13.

PMID:
25623524
4.

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM.

Neurol Genet. 2015 Oct 15;1(4):e28. doi: 10.1212/NXG.0000000000000028. eCollection 2015 Dec.

5.

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. doi: 10.1002/ana.24126. Epub 2014 Apr 14.

PMID:
24585383
6.

Depdc5 knockout rat: A novel model of mTORopathy.

Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S.

Neurobiol Dis. 2016 May;89:180-9. doi: 10.1016/j.nbd.2016.02.010. Epub 2016 Feb 9.

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. doi: 10.1111/cge.12992. Epub 2017 Mar 30.

PMID:
28170089
8.

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 Jr, 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. 2018 Aug 10. doi: 10.1038/s41436-018-0060-2. [Epub ahead of print] Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

PMID:
30093711
9.

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. doi: 10.1038/ng.2599. Epub 2013 Mar 31.

PMID:
23542697
10.

Partial deletion of DEPDC5 in a child with focal epilepsy.

Bonaglia MC, Giorda R, Epifanio R, Bertuzzo S, Marelli S, Gerard M, Andrieux J, Zanotta N, Zucca C.

Epilepsia Open. 2016 Aug 25;1(3-4):140-144. doi: 10.1002/epi4.12012. eCollection 2016 Dec.

11.

DEPDC5 mutations in genetic focal epilepsies of childhood.

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA.

Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14.

PMID:
24591017
12.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12.

13.

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. doi: 10.1111/cge.12311. Epub 2013 Nov 27.

PMID:
24283814
14.

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

Baulac S.

Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7. Review.

PMID:
25194487
15.

Cortical involvement in focal epilepsies with epileptic spasms.

de la Vaissière S, Milh M, Scavarda D, Carron R, Lépine A, Trébuchon A, Gavaret M, Hewett R, Laguitton V, Daquin G, Villeneuve N, Bartolomei F.

Epilepsy Res. 2014 Nov;108(9):1572-80. doi: 10.1016/j.eplepsyres.2014.08.008. Epub 2014 Aug 30.

PMID:
25212728
16.

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

van Kranenburg M, Hoogeveen-Westerveld M, Nellist M.

Hum Mutat. 2015 Feb;36(2):200-9. doi: 10.1002/humu.22723. Epub 2014 Nov 27.

PMID:
25366275
17.

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 1;128(6):2452-2458. doi: 10.1172/JCI99384. Epub 2018 Apr 30.

18.

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.

Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.

19.

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S.

Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523. doi: 10.1002/acn3.542. eCollection 2018 May.

20.

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 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9.

PMID:
24814846

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