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Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: milh m. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C. Nguyen T, et al. Among authors: milh m. Prenat Diagn. 2023 Jun;43(6):746-755. doi: 10.1002/pd.6382. Epub 2023 May 23. Prenat Diagn. 2023. PMID: 37173814
Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls.
Kan ASH, Kusay AS, Mohammadi NA, Lin SXN, Liao VWY, Lesca G, Souci S, Milh M, Christophersen P, Chebib M, Møller RS, Absalom NL, Jensen AA, Ahring PK. Kan ASH, et al. Among authors: milh m. Proc Natl Acad Sci U S A. 2024 Dec 10;121(50):e2413011121. doi: 10.1073/pnas.2413011121. Epub 2024 Dec 6. Proc Natl Acad Sci U S A. 2024. PMID: 39642202 Free PMC article.
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke.
Pegoraro V, Viellevoye R, Malfilatre G, Dilena R, Proietti J, Mauro I, Zardini C, Dzietko M, Lacan L, Desnous B, Cordelli DM, Campi F, Da Silva MR, Fumagalli M, Nguyen The Tich S, Felderhoff-Müser U, Ventura G, Sartori S, Benders M, Pittini C, Cavicchiolo ME, Milh M, Cantalupo G, van Maanen A, Tataranno ML, Cilio MR. Pegoraro V, et al. Among authors: milh m. Epilepsia. 2024 Nov 23. doi: 10.1111/epi.18194. Online ahead of print. Epilepsia. 2024. PMID: 39579039
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Al Hashem AM, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. Rawlins LE, et al. Among authors: milh m. Genet Med. 2024 Sep 21;27(2):101278. doi: 10.1016/j.gim.2024.101278. Online ahead of print. Genet Med. 2024. PMID: 39315527 Free article.
169 results