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223 results

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Page 1
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. Among authors: arzimanoglou a. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: arzimanoglou a. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.
Moore T, Hecquet S, McLellann A, Ville D, Grid D, Picard F, Moulard B, Asherson P, Makoff AJ, McCormick D, Nashef L, Froguel P, Arzimanoglou A, LeGuern E, Bailleul B. Moore T, et al. Among authors: arzimanoglou a. Epilepsy Res. 2001 Aug;46(2):157-67. doi: 10.1016/s0920-1211(01)00275-3. Epilepsy Res. 2001. PMID: 11463517
A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.
de Bellescize J, Boutry N, Chabrol E, André-Obadia N, Arzimanoglou A, Leguern E, Baulac S, Calender A, Ryvlin P, Lesca G. de Bellescize J, et al. Among authors: arzimanoglou a. Epilepsy Res. 2009 Jul;85(1):118-22. doi: 10.1016/j.eplepsyres.2009.02.007. Epub 2009 Mar 5. Epilepsy Res. 2009. PMID: 19268539
MECP2 mutations account for most cases of typical forms of Rett syndrome.
Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. Bienvenu T, et al. Among authors: arzimanoglou a. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719
The evaluation and costs of transition programs for youth with epilepsy.
Nabbout R, Arzimanoglou A, Chin RFM, Grinspan Z, Speechley K, Camfield P. Nabbout R, et al. Among authors: arzimanoglou a. Epilepsy Behav. 2019 Apr;93:133-137. doi: 10.1016/j.yebeh.2018.12.014. Epub 2019 Jan 6. Epilepsy Behav. 2019. PMID: 30626546 Review.
Epilepsy and cannabidiol: a guide to treatment.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators. Arzimanoglou A, et al. Epileptic Disord. 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. Epileptic Disord. 2020. PMID: 32096470 Free article. Review.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou A, Armstrong J, Palau F, Hoenicka J, San Antonio-Arce V. Martinez-Esteve Melnikova A, et al. Among authors: arzimanoglou a. Eur J Med Genet. 2022 Mar;65(3):104442. doi: 10.1016/j.ejmg.2022.104442. Epub 2022 Jan 28. Eur J Med Genet. 2022. PMID: 35093607 Review.
223 results