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Paper Details

Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy.
Neurol Genet
98
2016
FCD, FCD II, MTOR, MTOR gene, MTOR variants, Ser2215Phe, blood, brain malformation, brain malformations, epilepsies, epilepsy, focal cortical dysplasia, focal epilepsies, focal epilepsy syndromes, focal, and less frequently generalized,, intellectual disability, mTORC1, macrocephaly, nonlesional autosomal dominant nocturnal frontal lobe epilepsy, participants, patients
Author NameAffiliation
Elizabeth Martina BebinDenmark Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense Sorbonne Universites (S.W., Inserm U7, CNRS UMR 7225, Institut du cerveau et la moelle (ICM)-Hopital Pitie-Salpetriere, AP-HP Groupe hospitalier Pitie-Salpetriere, Institute Born-Bunge, University of Antwerp, University Hospital Antwerp, France Universite Paris Sorbonne Cite (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Peres, University of Alabama at Birmingham HudsonAlpha Institute for Biotechnology (S.M.H., A Meyer Children's Hospital, University of Florence, Institut du Cerveau et de la Moelle epiniere, France and University of Copenhagen (G.R.)
Susan M HiattDenmark Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense Sorbonne Universites (S.W., Inserm U7, CNRS UMR 7225, Institut du cerveau et la moelle (ICM)-Hopital Pitie-Salpetriere, AP-HP Groupe hospitalier Pitie-Salpetriere, Institute Born-Bunge, University of Antwerp, University Hospital Antwerp, France Universite Paris Sorbonne Cite (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Peres, University of Alabama at Birmingham HudsonAlpha Institute for Biotechnology (S.M.H., A Meyer Children's Hospital, University of Florence, Institut du Cerveau et de la Moelle epiniere, France and University of Copenhagen (G.R.)
Kevin M BowlingDenmark Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense Sorbonne Universites (S.W., Inserm U7, CNRS UMR 7225, Institut du cerveau et la moelle (ICM)-Hopital Pitie-Salpetriere, AP-HP Groupe hospitalier Pitie-Salpetriere, Institute Born-Bunge, University of Antwerp, University Hospital Antwerp, France Universite Paris Sorbonne Cite (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Peres, University of Alabama at Birmingham HudsonAlpha Institute for Biotechnology (S.M.H., A Meyer Children's Hospital, University of Florence, Institut du Cerveau et de la Moelle epiniere, France and University of Copenhagen (G.R.)
Gregory M CooperDenmark Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense Sorbonne Universites (S.W., Inserm U7, CNRS UMR 7225, Institut du cerveau et la moelle (ICM)-Hopital Pitie-Salpetriere, AP-HP Groupe hospitalier Pitie-Salpetriere, Institute Born-Bunge, University of Antwerp, University Hospital Antwerp, France Universite Paris Sorbonne Cite (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Peres, University of Alabama at Birmingham HudsonAlpha Institute for Biotechnology (S.M.H., A Meyer Children's Hospital, University of Florence, Institut du Cerveau et de la Moelle epiniere, France and University of Copenhagen (G.R.)
Gregory M CooperDenmark Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense Sorbonne Universites (S.W., Inserm U7, CNRS UMR 7225, Institut du cerveau et la moelle (ICM)-Hopital Pitie-Salpetriere, AP-HP Groupe hospitalier Pitie-Salpetriere, Institute Born-Bunge, University of Antwerp, University Hospital Antwerp, France Universite Paris Sorbonne Cite (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Peres, University of Alabama at Birmingham HudsonAlpha Institute for Biotechnology (S.M.H., A Meyer Children's Hospital, University of Florence, Institut du Cerveau et de la Moelle epiniere, France and University of Copenhagen (G.R.)
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