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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: scholly j. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bär S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G. Doummar D, et al. Among authors: scholly j. Eur J Hum Genet. 2020 Oct;28(10):1403-1413. doi: 10.1038/s41431-020-0641-9. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467598 Free PMC article.
Can histologically normal epileptogenic zone share common electrophysiological phenotypes with focal cortical dysplasia? SEEG-based study in MRI-negative epileptic patients.
Lagarde S, Scholly J, Popa I, Valenti-Hirsch MP, Trebuchon A, McGonigal A, Milh M, Staack AM, Lannes B, Lhermitte B, Proust F, Benmekhbi M, Scavarda D, Carron R, Figarella-Branger D, Hirsch E, Bartolomei F. Lagarde S, et al. Among authors: scholly j. J Neurol. 2019 Aug;266(8):1907-1918. doi: 10.1007/s00415-019-09339-4. Epub 2019 May 4. J Neurol. 2019. PMID: 31055634
Hypothalamic hamartoma: Epileptogenesis beyond the lesion?
Scholly J, Staack AM, Kahane P, Scavarda D, Régis J, Hirsch E, Bartolomei F. Scholly J, et al. Epilepsia. 2017 Jun;58 Suppl 2:32-40. doi: 10.1111/epi.13755. Epilepsia. 2017. PMID: 28591482 Review.
Selective amygdalohippocampectomy versus standard temporal lobectomy in patients with mesial temporal lobe epilepsy and unilateral hippocampal sclerosis.
Wendling AS, Hirsch E, Wisniewski I, Davanture C, Ofer I, Zentner J, Bilic S, Scholly J, Staack AM, Valenti MP, Schulze-Bonhage A, Kehrli P, Steinhoff BJ. Wendling AS, et al. Among authors: scholly j. Epilepsy Res. 2013 Mar;104(1-2):94-104. doi: 10.1016/j.eplepsyres.2012.09.007. Epub 2012 Sep 28. Epilepsy Res. 2013. PMID: 23022178
32 results