P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy

Autor: Oleksandr Olifir, Claudia Moreau, Maxime Cadieux-Dion, Berge Minassian, Patrick Cossette, Simon Girard

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101513- (2024)

Externí odkaz: https://doaj.org/article/daeca715cf1a4efcbbb8c9243f3fc41b

A Review of Targeted Therapies for Monogenic Epilepsy Syndromes

Autor: Vincent Zimmern, Berge Minassian, Christian Korff

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

Genetic sequencing technologies have led to an increase in the identification and characterization of monogenic epilepsy syndromes. This increase has, in turn, generated strong interest in developing “precision therapies” based on the unique mole

Externí odkaz: https://doaj.org/article/fe58e2972a54427aac0cb0b2322babde

Unraveling the role of non-coding rare variants in epilepsy

Autor: Alexandre Girard, Claudia Moreau, Jacques Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard

ImportanceDespite the use of very large cohorts, the discovery of new variants has leveled off in recent years in epilepsy studies and consequently, most of the heritability is still unexplained. Rare non-coding variants have been largely ignored in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e96171f8193f6da0ef7951903d8f2f3a
https://doi.org/10.1101/2022.12.13.22283363

251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

Autor: Pascal Laforêt, Anders Oldfors, Edoardo Malfatti, John Vissing, Marie-Anne Colle, Jordi Duran, Matthew Gentry, Joan Guinovart, Thomas Hurley, Or Kakhlon, Thomas Krag, Hal Landy, Camilla B. Lilleør, Berge Minassian, Federico Mingozzi, Elaine Murphy, Richard Piercy, Monique Piraud, Vyas Ramanan, Mads Stemmerik, Christer Thomsen, Miguel Weil

Publikováno v: unknow
unknow, 2021, unknow, France. pp.466-477, ⟨10.1016/j.nmd.2021.01.010⟩
Laforêt, P, Oldfors, A, Malfatti, E, Vissing, J, Colle, M A, Duran, J, Gentry, M, Guinovart, J, Hurley, T, Kakhlon, O, Krag, T, Landy, H, Lilleør, C B, Minassian, B, Mingozzi, F, Murphy, E, Piercy, R, Piraud, M, Ramanan, V, Stemmerik, M, Thomsen, C, Weil, M & ENMC 251st workshop study group 2021, ' 251st ENMC international workshop : Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands ', Neuromuscular Disorders, vol. 31, no. 5, pp. 466-477 . https://doi.org/10.1016/j.nmd.2021.01.010
Neuromuscul Disord

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a112e235ca00e1f6b816663aea614a7b
https://hal.archives-ouvertes.fr/hal-03256437

Preliminary safety data of a phase 1 first in-human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease

Autor: Saima Kayani, Xin Chen, Souad Messahel, Veronica Edgar, Susan Iannaccone, Steven Gray, Berge Minassian, Benjamin Greenberg

Publikováno v: Molecular Genetics and Metabolism. 135:S65

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5f1e0263fe51f937a61f61b820ff3c7
https://doi.org/10.1016/j.ymgme.2021.11.164