Lynette G Sadleir

Lynette G Sadleir

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Lynette G Sadleir

Lynette G Sadleir

Publications by authors named "Lynette G Sadleir"

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Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

Eur J Paediatr Neurol 2020 Jan 3;24:142-147. Epub 2020 Jan 3.

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

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http://dx.doi.org/10.1016/j.ejpn.2019.12.020DOI Listing
January 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Fragile Females: Case Series of Epilepsy in Girls With Disruption.

Pediatrics 2019 09 22;144(3). Epub 2019 Aug 22.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne and Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1542/peds.2019-0599DOI Listing
September 2019

Double somatic mosaicism in a child with Dravet syndrome.

Neurol Genet 2019 Jun 19;5(3):e333. Epub 2019 Apr 19.

Division of Genetic Medicine (A.M.M., A.S.B., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Paediatrics and Child Health (C.K.), University of Otago, Wellington, New Zealand; Department of Medicine (A.L.S., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Australia; The Florey Institute and Murdoch Children's Research Institute (I.E.S.), Parkville, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Australia; and Department of Paediatrics and Child Health (L.G.S.), University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1212/NXG.0000000000000333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481227PMC
June 2019

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Epilepsia 2019 Mar 3;60(3):429-440. Epub 2019 Mar 3.

Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1111/epi.14678
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http://dx.doi.org/10.1111/epi.14678DOI Listing
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Efficacy of cannabinoids in paediatric epilepsy.

Dev Med Child Neurol 2019 01 6;61(1):13-18. Epub 2018 Nov 6.

Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14087
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http://dx.doi.org/10.1111/dmcn.14087DOI Listing
January 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.

Epilepsia 2018 07 6;59(7):1372-1380. Epub 2018 Jun 6.

Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.14438DOI Listing
July 2018

Do neurologists around the world agree when diagnosing epilepsy? - Results of an international EpiNet study.

Epilepsy Res 2018 01 26;139:43-50. Epub 2017 Oct 26.

Department of Medicine, St. Vincent's Hospital, The University of Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.10.014DOI Listing
January 2018

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

Not all epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology 2017 Sep 9;89(10):1035-1042. Epub 2017 Aug 9.

From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589790PMC
September 2017

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Am J Med Genet A 2016 Apr 28;170A(4):1059-63. Epub 2015 Dec 28.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37527DOI Listing
April 2016

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

Epilepsy Res 2015 Aug 5;114:98-105. Epub 2015 May 5.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2015.04.014DOI Listing
August 2015

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Epilepsy Res 2013 Dec 8;107(3):311-7. Epub 2013 Oct 8.

Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.09.008DOI Listing
December 2013

Clinical genetic study of the epilepsy-aphasia spectrum.

Epilepsia 2013 Feb 7;54(2):280-7. Epub 2013 Jan 7.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12065DOI Listing
February 2013

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Epilepsia 2012 Dec 25;53(12):e204-7. Epub 2012 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12007DOI Listing
December 2012

Family studies of individuals with eyelid myoclonia with absences.

Epilepsia 2012 Dec;53(12):2141-8

Department of Paediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand.

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http://doi.wiley.com/10.1111/j.1528-1167.2012.03692.x
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http://dx.doi.org/10.1111/j.1528-1167.2012.03692.xDOI Listing
December 2012

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Arch Neurol 2012 Apr;69(4):474-81

Institute of Genetic Medicine, Faculty of Medical Sciences and Newcastle Biomedicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/archneurol.2011.584DOI Listing
April 2012

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.

Epilepsia 2012 Feb 5;53(2):319-24. Epub 2012 Jan 5.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03368.xDOI Listing
February 2012

Electroclinical features of absence seizures in sleep.

Epilepsy Res 2011 Feb 20;93(2-3):216-20. Epub 2011 Jan 20.

Department of Pediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.12.009DOI Listing
February 2011

Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures.

Arch Neurol 2010 Nov 12;67(11):1345-9. Epub 2010 Jul 12.

Department of Pediatrics, Wellington School of Medicine and Health Sciences, University of Otago, PO Box 7343, Wellington South, 6242, New Zealand.

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http://dx.doi.org/10.1001/archneurol.2010.155DOI Listing
November 2010

Using the Internet to recruit patients for epilepsy trials: results of a New Zealand pilot study.

Epilepsia 2010 May 3;51(5):868-73. Epub 2009 Nov 3.

Neurology Department, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02393.xDOI Listing
May 2010

Automatisms in absence seizures in children with idiopathic generalized epilepsy.

Arch Neurol 2009 Jun;66(6):729-34

Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1001/archneurol.2009.108DOI Listing
June 2009

Factors influencing clinical features of absence seizures.

Epilepsia 2008 Dec 26;49(12):2100-7. Epub 2008 Jun 26.

Department of Pediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01708.xDOI Listing
December 2008

Bringing epilepsy out of the shadows in New Zealand.

N Z Med J 2008 Jan 25;121(1268):U2894. Epub 2008 Jan 25.

Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand.

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January 2008

Febrile seizures.

BMJ 2007 Feb;334(7588):307-11

Department of Paediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand.

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http://www.bmj.com/lookup/doi/10.1136/bmj.39087.691817.AE
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http://dx.doi.org/10.1136/bmj.39087.691817.AEDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1796669PMC
February 2007

Acute flaccid paralysis from echovirus type 33 infection.

J Clin Microbiol 2003 May;41(5):2230-2

Department of Paediatrics and Child Health, Wellington School of Medicine and Health Sciences, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC154677PMC
http://dx.doi.org/10.1128/jcm.41.5.2230-2232.2003DOI Listing
May 2003