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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: milh m. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
[Epilepsy in the child].
Milh M, Chabrol B. Milh M, et al. Rev Prat. 2009 May 20;59(5):689-93. Rev Prat. 2009. PMID: 19552211 French. No abstract available.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P. Lesca G, et al. Among authors: m rrabet a, milh m. Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5. Epilepsia. 2010. PMID: 20738377 Free article.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L. Milh M, et al. Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80. Orphanet J Rare Dis. 2013. PMID: 23692823 Free PMC article.
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.
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.
Chipaux M, Szurhaj W, Vercueil L, Milh M, Villeneuve N, Cances C, Auvin S, Chassagnon S, Napuri S, Allaire C, Derambure P, Marchal C, Caubel I, Ricard-Mousnier B, N'Guyen The Tich S, Pinard JM, Bahi-Buisson N, de Baracé C, Kahane P, Gautier A, Hamelin S, Coste-Zeitoun D, Rosenberg SD, Clerson P, Nabbout R, Kuchenbuch M, Picot MC, Kaminska A; GRENAT Group. Chipaux M, et al. Among authors: milh m. Epilepsia. 2016 May;57(5):757-69. doi: 10.1111/epi.13368. Epub 2016 Apr 1. Epilepsia. 2016. PMID: 27037674 Free article.
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.
Rheims S, Herbillon V, Villeneuve N, Auvin S, Napuri S, Cances C, Berquin P, Castelneau P, Nguyen The Tich S, Villega F, Isnard H, Nabbout R, Gaillard S, Mercier C, Kassai B, Arzimanoglou A; investigators of the Paediatric Epilepsy REsearch NEtwork (PERENE). Rheims S, et al. Epilepsia. 2016 Jul;57(7):1069-77. doi: 10.1111/epi.13420. Epub 2016 May 29. Epilepsia. 2016. PMID: 27237724 Free article.
162 results