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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: milh m. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276
Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).
Lenoir M, Beretti T, Testud B, Resseguier N, Gauthier K, Fouilloux V, Gran C, Paoli F, El-Louali F, Aldebert P, Blanc J, Soulatges C, Al-Dybiat S, Carles G, Wanert C, Rozalen W, Lebel S, Arnaud S, Santelli D, Allary C, Peyre M, Grandvuillemin I, Desroberts C, Alaoui MB, Boubred F, Michel F, Ovaert C, Milh M, François C, Desnous B. Lenoir M, et al. Among authors: milh m. Front Pediatr. 2023 Mar 23;11:1003585. doi: 10.3389/fped.2023.1003585. eCollection 2023. Front Pediatr. 2023. PMID: 37033180 Free PMC article.
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
Dozieres-Puyravel B, Nasser H, Mauvais FX, De Saint Martin A, Perriard C, Di Meglio C, Cances C, Hachon-LE Camus C, Milh M, Auvin S. Dozieres-Puyravel B, et al. Among authors: milh m. Eur J Paediatr Neurol. 2024 Jan;48:61-66. doi: 10.1016/j.ejpn.2023.11.009. Epub 2023 Nov 27. Eur J Paediatr Neurol. 2024. PMID: 38041897 Clinical Trial.
Overview of therapeutic options for epilepsy.
Kuchenbuch M, Chiron C, Milh M. Kuchenbuch M, et al. Among authors: milh m. Arch Pediatr. 2022 Dec;29(5S):5S14-5S19. doi: 10.1016/S0929-693X(22)00285-8. Arch Pediatr. 2022. PMID: 36585066 Review.
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T. Bahi-Buisson N, et al. Among authors: milh m. Am J Med Genet A. 2012 Jul;158A(7):1612-9. doi: 10.1002/ajmg.a.35401. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678952
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: milh m. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
162 results