D
Dina Amrom
Researcher at Université libre de Bruxelles
Publications - 24
Citations - 985
Dina Amrom is an academic researcher from Université libre de Bruxelles. The author has contributed to research in topics: Epilepsy & Polymicrogyria. The author has an hindex of 12, co-authored 24 publications receiving 811 citations. Previous affiliations of Dina Amrom include Montreal Neurological Institute and Hospital & Centre Hospitalier de Luxembourg.
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Journal ArticleDOI
Somatic mutations in cerebral cortical malformations
Saumya Shekhar Jamuar,Anh Thu N. Lam,Martin Kircher,Alissa M. D'Gama,Jian Wang,Brenda J. Barry,Xiaochang Zhang,Robert Sean Hill,Jennifer N. Partlow,Aldo Rozzo,Sarah Servattalab,Bhaven K. Mehta,Meral Topçu,Dina Amrom,Eva Andermann,Bernard Dan,Elena Parrini,Renzo Guerrini,Ingrid E. Scheffer,Samuel F. Berkovic,Richard J. Leventer,Yiping Shen,Bai-Lin Wu,A. James Barkovich,Mustafa Sahin,Bernard S. Chang,Michael J. Bamshad,Deborah A. Nickerson,Jay Shendure,Annapurna Poduri,Timothy W. Yu,Christopher A. Walsh +31 more
TL;DR: Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations and potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria were found.
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Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Andrew S. Allen,Susannah T. Bellows,Samuel F. Berkovic,Joshua Bridgers,Rosemary Burgess,Gianpiero L. Cavalleri,Seo-Kyung Chung,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Michael P. Epstein,Catharine Freyer,David Goldstein,Erin L. Heinzen,Michael S. Hildebrand,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Anthony G Marson,Richard Mayeux,Caroline Mebane,Heather C Mefford,Terence J. O'Brien,Ruth Ottman,Steven Petrou,Slavgé Petrovski,William O. Pickrell,Annapurna Poduri,Rodney A. Radtke,Mark I. Rees,Brigid M. Regan,Zhong Ren,Ingrid E. Scheffer,Graeme J. Sills,Rhys H. Thomas,Quanli Wang,Bassel Abou-Khalil,Brian K. Alldredge,Dina Amrom,Eva Andermann,Frederick Andermann,Jocelyn F. Bautista,Judith Bluvstein,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Tracy A. Glauser,Simon Glynn,Kevin Haas,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Jack M. Parent,Kristen Park,Lynette G. Sadleir,Renée A. Shellhaas,Elliott H. Sherr,Jerry J. Shih,Shlomo Shinnar,Rani K. Singh,Joseph I Sirven,Mike Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +85 more
TL;DR: Excess ultra-rare variation in known epilepsy genes is identified, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population.
Journal ArticleDOI
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Richard S. Smith,Connor J. Kenny,Vijay S. Ganesh,Ahram Jang,Rebeca Borges-Monroy,Jennifer N. Partlow,R. Sean Hill,Taehwan Shin,Allen Y. Chen,Ryan N. Doan,Anna-Kaisa Anttonen,Jaakko Ignatius,Livija Medne,Carsten G. Bönnemann,Jonathan L. Hecht,Oili Salonen,A. James Barkovich,Annapurna Poduri,Martina Wilke,Marie Claire Y. de Wit,Grazia M.S. Mancini,László Sztriha,Kiho Im,Dina Amrom,Eva Andermann,Ritva Paetau,Anna-Elina Lehesjoki,Christopher A. Walsh,Maria K. Lehtinen +28 more
TL;DR: A unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3 is discovered, implicating SCN2A in prenatal development of human cortical language areas and underscoring the unexpected role of SCN 3A in progenitor cells and migrating neurons.
Journal ArticleDOI
Mutations in TMEM231 cause Joubert syndrome in French Canadians
Myriam Srour,Fadi F. Hamdan,Jeremy Schwartzentruber,Lysanne Patry,Luis H. Ospina,Michael Shevell,Valérie Désilets,Sylvia Dobrzeniecka,Géraldine Mathonnet,Emmanuelle Lemyre,Christine Massicotte,Damian Labuda,Dina Amrom,Eva Andermann,Guillaume Sébire,Bruno Maranda,Guy A. Rouleau,Jacek Majewski,Jacques L. Michaud +18 more
TL;DR: The data suggest that mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.
Journal ArticleDOI
Reversible striatal hypermetabolism in a case of sydenham's chorea
Serge Goldman,Dina Amrom,Henri Szliwowski,Dominique Detemmerman,Sylvie Goldman,Luc Bidaut,Etienne Stanus,André Luxen +7 more
TL;DR: It is proposed that the transient striatal hypermetabolism may have been due to increased afferent inputs to the striatum as a consequence of striatal or subthalamic nucleus dysfunction.