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Page 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. Baulac S, et al. Among authors: leguern e. Ann Neurol. 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13. Ann Neurol. 2015. PMID: 25623524 Free article.
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Ishida S, et al. Among authors: leguern e. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542701 Free PMC article.
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. Picard F, et al. Among authors: leguern e. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
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. Weckhuysen S, et al. Among authors: leguern e. Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13. Epilepsia. 2016. PMID: 27173016 Free article.
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Møller RS, et al. Among authors: leguern e. Neurol Genet. 2016 Oct 31;2(6):e118. doi: 10.1212/NXG.0000000000000118. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830187 Free PMC article.
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. de Calbiac H, et al. Among authors: leguern e. Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523. doi: 10.1002/acn3.542. eCollection 2018 May. Ann Clin Transl Neurol. 2018. PMID: 29761115 Free PMC article.
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E. Baulac S, et al. Among authors: leguern e. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598713 Free PMC article.
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.
Boillot M, Huneau C, Marsan E, Lehongre K, Navarro V, Ishida S, Dufresnois B, Ozkaynak E, Garrigue J, Miles R, Martin B, Leguern E, Anderson MP, Baulac S. Boillot M, et al. Among authors: leguern e. Brain. 2014 Nov;137(Pt 11):2984-96. doi: 10.1093/brain/awu259. Epub 2014 Sep 17. Brain. 2014. PMID: 25234641 Free PMC article.
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. Marsan E, et al. Among authors: leguern e. Neurobiol Dis. 2016 May;89:180-9. doi: 10.1016/j.nbd.2016.02.010. Epub 2016 Feb 9. Neurobiol Dis. 2016. PMID: 26873552 Free article.
243 results