M
Mathieu Milh
Researcher at Aix-Marseille University
Publications - 138
Citations - 4993
Mathieu Milh is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: Epilepsy & Medicine. The author has an hindex of 34, co-authored 125 publications receiving 3978 citations. Previous affiliations of Mathieu Milh include Boston Children's Hospital & French Institute of Health and Medical Research.
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Journal ArticleDOI
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Sabine Endele,Georg Rosenberger,Kirsten Geider,Bernt Popp,Ceyhun Tamer,Irina Stefanova,Mathieu Milh,Fanny Kortüm,Angela Fritsch,Friederike K. Pientka,Friederike K. Pientka,Yorck Hellenbroich,Vera M. Kalscheuer,Jürgen Kohlhase,Ute Moog,Gudrun A. Rappold,Anita Rauch,Anita Rauch,Hans-Hilger Ropers,Sarah von Spiczak,Holger Tönnies,Nathalie Villeneuve,Laurent Villard,Bernhard Zabel,Martin Zenker,Martin Zenker,Bodo Laube,André Reis,Dagmar Wieczorek,Lionel Van Maldergem,Kerstin Kutsche +30 more
TL;DR: It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
Journal ArticleDOI
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff,Katrine M Johannesen,Ulrike B. S. Hedrich,Silvia Masnada,Guido Rubboli,Elena Gardella,Gaetan Lesca,Gaetan Lesca,Dorothée Ville,Mathieu Milh,Laurent Villard,Alexandra Afenjar,Sandra Chantot-Bastaraud,Cyril Mignot,Caroline Lardennois,Caroline Nava,Niklas Schwarz,Marion Gérard,Laurence Perrin,Diane Doummar,Stéphane Auvin,Maria J Miranda,Maja Hempel,Eva H. Brilstra,Nine V A M Knoers,Nienke E. Verbeek,Marjan J. A. van Kempen,Kees P.J. Braun,Grazia M.S. Mancini,Saskia Biskup,Konstanze Hörtnagel,Miriam Döcker,Thomas Bast,Tobias Loddenkemper,Lily C. Wong-Kisiel,Friedrich A. M. Baumeister,Walid Fazeli,Pasquale Striano,Robertino Dilena,Elena Fontana,Federico Zara,Gerhard Kurlemann,Joerg Klepper,Jess G. Thoene,Daniel H. Arndt,Nicolas Deconinck,Thomas Schmitt-Mechelke,Oliver Maier,Hiltrud Muhle,Beverly Wical,Claudio Finetti,Reinhard Brückner,Joachim Pietz,Günther Golla,Dinesh V Jillella,Karen Markussen Linnet,Perrine Charles,Ute Moog,Eve Õiglane-Shlik,John F Mantovani,Kristen Park,Marie Deprez,Damien Lederer,Sandrine Mary,Emmanuel Scalais,Laila Selim,Rudy Van Coster,Lieven Lagae,Marina Nikanorova,Helle Hjalgrim,G. Christoph Korenke,Marina Trivisano,Nicola Specchio,Berten Ceulemans,Thomas Dorn,Katherine L. Helbig,Katia Hardies,Hannah Stamberger,Peter De Jonghe,Sarah Weckhuysen,Johannes R. Lemke,Ingeborg Krägeloh-Mann,Ingo Helbig,Ingo Helbig,Gerhard Kluger,Holger Lerche,Rikke S. Møller +86 more
TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Journal ArticleDOI
Rapid Cortical Oscillations and Early Motor Activity in Premature Human Neonate
Mathieu Milh,Anna Kaminska,Catherine Huon,Alexandre Lapillonne,Yehezkel Ben-Ari,Rustem Khazipov +5 more
TL;DR: It is proposed that in the human fetus in utero, before the brain starts to receive elaborated sensory input from the external world, spontaneous fetal movements provide sensory stimulation and drive delta-brush oscillations in the developing somatosensory cortex contributing to the formation of cortical body maps.
Journal ArticleDOI
Key clinical features to identify girls with CDKL5 mutations
Nadia Bahi-Buisson,Juliette Nectoux,Juliette Nectoux,Haydeé Rosas-Vargas,Haydeé Rosas-Vargas,Mathieu Milh,Nathalie Boddaert,Nathalie Boddaert,Benoit Girard,Claude Cances,Dorothée Ville,Alexandra Afenjar,Marlène Rio,Delphine Héron,Marie Ange N'Guyen Morel,Alexis Arzimanoglou,Christophe Philippe,Philippe Jonveaux,Jamel Chelly,Jamel Chelly,Thierry Bienvenu,Thierry Bienvenu +21 more
TL;DR: It is shown that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and inGirls with RTT-like phenotype and early onset seizures, though, in this cohort, mutations in CDsL5 account for about 10% of the girls affected by these disorders.
Journal ArticleDOI
A conserved switch in sensory processing prepares developing neocortex for vision
Matthew T. Colonnese,Anna Kaminska,Anna Kaminska,Marat Minlebaev,Mathieu Milh,Bernard Bloem,Sandra Lescure,G. Moriette,Catherine Chiron,Catherine Chiron,Catherine Chiron,Yehezkel Ben-Ari,Rustem Khazipov +12 more
TL;DR: A "bursting" period of visual responsiveness during which the weak retinal output is amplified by endogenous network oscillations, enabling a primitive form of vision and ending shortly before delivery in humans and eye opening in rodents.