The Team
  • Researchers

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctoral Fellows

    Florent COLIN

    Maria Victoria HINCKELMANN RIVAS

  • PhD Students

    Jérémie COURRAUD

    Johan GILET

    Karima HABBAS-BERKIOUI

  • Engineers & Technicians

    Nathalie DROUOT

    Eric FLATTER

    Gabrielle RUDOLF

    Valérie SKORY

  • Trainee

    Meriam HADJ AMOR

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Publications

Print the whole list

  • IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

    Mignot C(1)(2), McMahon AC(3), Bar C(4)(5)(6), Campeau PM(7), Davidson C(3), Buratti J(8), Nava C(9)(8), Jacquemont ML(10), Tallot M(10), Milh M(11)(12), Edery P(13)(14)(15), Marzin P(8), Barcia G(5)(6)(16), Barnerias C(17), Besmond C(5)(6), Bienvenu T(18)(19), Bruel AL(20)(21), Brunga L(22), Ceulemans B(23), Coubes C(24), Cristancho AG(25), Cunningham F(3), Dehouck MB(26), Donner EJ(22), Duban-Bedu B(26), Dubourg C(27), Gardella E(28)(29), Gauthier J(7), Genevieve D(24)(30), Gobin-Limballe S(16), Goldberg EM(25), Hagebeuk E(31), Hamdan FF(7), Hancarova M(32), Hubert L(5)(6), Ioos C(33), Ichikawa S(34), Janssens S(35), Journel H(36), Kaminska A(37), Keren B(8), Koopmans M(38), Lacoste C(39), Lassuthova P(40), Lederer D(41), Lehalle D(20)(42), Marjanovic D(28), Metreau J(43), Michaud JL(7), Miller K(44), Minassian BA(22), Morales J(3), Moutard ML(45)(46), Munnich A(5)(6)(16), Ortiz-Gonzalez XR(25), Pinard JM(47), Prchalova D(32), Putoux A(13)(14)(15), Quelin C(48), Rosen AR(25), Roume J(49), Rossignol E(50), Simon MEH(38), Smol T(51), Shur N(44), Shelihan I(7), Sterbova K(40), Vyhnalkova E(32), Vilain C(52)(53)(54), Soblet J(52)(53)(54), Smits G(52)(53)(54), Yang SP(55), van der Smagt JJ(38), van Hasselt PM(56), van Kempen M(38), Weckhuysen S(57)(58), Helbig I(25), Villard L(12)(39), Heron D(8), Koeleman B(38), Mller RS(27)(28), Lesca G(13)(14)(15), Helbig KL(25), Nabbout R(4)(5)(6), Verbeek NE(38), Depienne C(59)(60)(61).

    Genet Med Apr 2019;21:837-849.

  • The landscape of epilepsy-related GATOR1 variants.

    Baldassari S(1)(2)(3)(4)(5), Picard F(6), Verbeek NE(7), van Kempen M(7), Brilstra EH(7), Lesca G(8), Conti V(9), Guerrini R(9), Bisulli F(10), Licchetta L(10), Pippucci T(11), Tinuper P(10), Hirsch E(12), de Saint Martin A(13), Chelly J(14), Rudolf G(14), Chipaux M(15), Ferrand-Sorbets S(15), Dorfmuller G(15), Sisodiya S(16), Balestrini S(16), Schoeler N(16), Hernandez-Hernandez L(16), Krithika S(16), Oegema R(7), Hagebeuk E(17), Gunning B(17), Deckers C(17), Berghuis B(17), Wegner I(17), Niks E(18), Jansen FE(19), Braun K(19), de Jong D(20), Rubboli G(21), Talvik I(22), Sander V(22), Uldall P(23), Jacquemont ML(24), Nava C(1)(2)(3)(4)(5), Leguern E(1)(2)(3)(4)(5), Julia S(25), Gambardella A(26), d'Orsi G(27), Crichiutti G(28), Faivre L(29), Darmency V(30), Benova B(31), Krsek P(31), Biraben A(32), Lebre AS(33), Jennesson M(34), Sattar S(35), Marchal C(36), Nordli DR Jr(37), Lindstrom K(38), Striano P(39), Lomax LB(40)(41), Kiss C(41), Bartolomei F(42), Lepine AF(42), Schoonjans AS(43), Stouffs K(44), Jansen A(44), Panagiotakaki E(45), Ricard-Mousnier B(46), Thevenon J(47), de Bellescize J(45), Catenoix H(45), Dorn T(48), Zenker M(49), Muller-Schluter K(50), Brandt C(51), Krey I(52), Polster T(51), Wolff M(53), Balci M(54), Rostasy K(54), Achaz G(55), Zacher P(56), Becher T(57), Cloppenborg T(51), Yuskaitis CJ(58)(59)(60), Weckhuysen S(61), Poduri A(58)(59)(60), Lemke JR(52), Mller RS(62), Baulac S(63)(64)(65)(66)(67).

    Genet Med Feb 2019;21:398-408.

  • New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

    Chater-Diehl E(1), Ejaz R(2), Cytrynbaum C(1)(3)(4), Siu MT(1), Turinsky A(1)(5), Choufani S(1), Goodman SJ(1), Abdul-Rahman O(6), Bedford M(7)(8), Dorrani N(9), Engleman K(10), Flores-Daboub J(11), Genevieve D(12), Mendoza-Londono R(1)(3)(13), Meschino W(7), Perrin L(14), Safina N(15)(16)(17), Townshend S(18), Scherer SW(1)(4)(19)(20), Anagnostou E(21)(22), Piton A(23)(24), Deardorff M(25)(26), Brudno M(1)(5)(27), Chitayat D(3)(4)(28), Weksberg R(29)(30)(31)(32).

    BMC Med Genomics July 9, 2019;12:105.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 1258
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr