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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol. 2019 12; 138(6):885-900.
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. PMID: 31444548.
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26 Fields:
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HumansCells
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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. J Clin Invest. 2018 06 01; 128(6):2452-2458.
Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S. PMID: 29708508.
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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish. Ann Clin Transl Neurol. 2018 May; 5(5):510-523.
de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S. PMID: 29761115.
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7 Fields:
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Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy. Neuropathol Appl Neurobiol. 2018 02; 44(1):6-17.
Marsan E, Baulac S. PMID: 29359340.
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28 Fields:
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HumansCells
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2016 Dec; 2(6):e118.
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. PMID: 27830187.
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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 06; 57(6):994-1003.
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. PMID: 27173016.
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23 Fields:
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Humans
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Depdc5 knockout rat: A novel model of mTORopathy. Neurobiol Dis. 2016 May; 89:180-9.
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. PMID: 26873552.
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26 Fields:
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AnimalsCells
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Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr; 77(4):675-83.
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. PMID: 25623524.
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61 Fields:
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Humans
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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures. Brain. 2014 Nov; 137(Pt 11):2984-96.
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. PMID: 25234641.
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18 Fields:
Translation:
AnimalsCells