Ledia Brunga

Ledia Brunga

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Ledia Brunga

Ledia Brunga

Publications by authors named "Ledia Brunga"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

J Child Neurol 2019 Mar 5;34(3):132-138. Epub 2018 Dec 5.

1 Division of Neurology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0883073818813238DOI Listing
March 2019

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci 2018 01 16;45(1):93-96. Epub 2017 Nov 16.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.246DOI Listing
January 2018

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017