Brigid M Regan

Brigid M Regan

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Brigid M Regan

Brigid M Regan

Publications by authors named "Brigid M Regan"

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

JAMA Neurol 2017 11;74(11):1301-1311

Epilepsy Genetics Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jamaneurol.2017.1775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710585PMC
November 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

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Epilepsy Res 2017 03 7;131:1-8. Epub 2017 Feb 7.

Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.001DOI Listing
March 2017

A targeted resequencing gene panel for focal epilepsy.

Neurology 2016 Apr 30;86(17):1605-12. Epub 2016 Mar 30.

From the Epilepsy Research Centre (M.S.H., B.M.R., J.A.D., S.A.M., M.R.N., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Division of Genetic Medicine (C.T.M., G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Florey Institute for Neuroscience and Mental Health (U.N., E.V.G., C.J.M., C.A.R., S.P., I.E.S.), University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia; and Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.neurology.org/content/early/2016/03/30/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000260
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http://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 2016

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Neurol Genet 2015 Aug 23;1(2):e17. Epub 2015 Jul 23.

Division of Genetic Medicine (G.L.C., J. Saykally, M.Z., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Epilepsy Research Centre (D.E.C., B.M.R., J.M.M., A.L.S., S.A.M., S.F.B., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Neurology Department (D.E.C.), Northern Health, Melbourne, Australia; Epilepsy Research Program (L.D.), School of Pharmacy and Medical Sciences, and Sansom Institute for Health Research (L.D.), University of South Australia, Adelaide, Australia; Department of Neurology (K.B.H., R.J.L., A.S.H., I.E.S.), Royal Children's Hospital, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health (K.B.H., S.M., R.J.L., A.S.H., S.A.M., I.E.S.), Melbourne, Australia; Murdoch Childrens Research Institute (K.B.H., R.J.L., A.S.H.), Melbourne, Australia; Department of Paediatrics (S.M., R.J.L., A.S.H.) and Department of Radiology (S.M.), The University of Melbourne, Melbourne, Australia; and Epilepsy Division (J. Sullivan), Department of Neurology and Pediatrics, University of California, San Francisco.

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http://dx.doi.org/10.1212/NXG.0000000000000016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807908PMC
August 2015

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

Neurology 2014 Sep 1;83(11):1018-21. Epub 2014 Aug 1.

From the Agnes Ginges Centre for Molecular Cardiology (R.D.B., C.C., C.S.), Centenary Institute, Sydney; Sydney Medical School (R.D.B., C.S.), University of Sydney; Neurology Department (D.E.C., B.M.R.), Northern Health, Melbourne; Epilepsy Research Centre (D.E.C., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne; Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne; and Department of Cardiology (C.S.), Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000000781DOI Listing
September 2014

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Ann Neurol 2014 May 14;75(5):782-7. Epub 2014 Apr 14.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ana.24126DOI Listing
May 2014