Lynette G. Sadleir : rechercher sur Z-Library

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1

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Bagnall, Richard D., Crompton, Douglas E., Petrovski, Slavé, Lam, Lien, Cutmore, Carina, Garry, Sarah I., Sadleir, Lynette G., Dibbens, Leanne M., Cairns, Anita, Kivity, Sara, Afawi, Zaid, Regan, Brig

Journal:

Annals of Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 574 KB

english, 2016

2

The genetic landscape of the epileptic encephalopathies of infancy and childhood

Sadleir, Lynette

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 44 KB

english, 2017

3

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

Bergin, Peter S., Beghi, Ettore, Sadleir, Lynette G., Tripathi, Manjari, Richardson, Mark P., Bianchi, Elisa, D'Souza, Wendyl J.

Journal:

Epilepsy Research

Année:

2018

Langue:

english

Fichier:

PDF, 207 KB

english, 2018

4

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

Myers, Kenneth A., Bello-Espinosa, Luis E., Symonds, Joseph D., Zuberi, Sameer M., Clegg, Robin, Sadleir, Lynette G., Buchhalter, Jeffrey, Scheffer, Ingrid E.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 757 KB

english, 2018

5

Rare copy number variants are an important cause of epileptic encephalopathies

Heather C. Mefford, Simone C. Yendle, Cynthia Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg-Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben-Zeev, Tally Lerman-Sagie, Mark Mack

Journal:

Annals of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 879 KB

english, 2011

6

Electroclinical features of absence seizures in sleep

Lynette G. Sadleir, Kevin Farrell, Sherry Smith, Mary B. Connolly, Ingrid E. Scheffer

Journal:

Epilepsy Research

Année:

2011

Langue:

english

Fichier:

PDF, 343 KB

english, 2011

7

Acquired brachial-plexus neuropathy in the neonate: a rare presentation of late-onset group-B streptococcal osteomyelitis

Lynette G Sadleir, Mary B Connolly

Journal:

Developmental Medicine & Child Neurology

Année:

1998

Langue:

english

Fichier:

PDF, 352 KB

english, 1998

8

Factors influencing clinical features of absence seizures

Lynette G. Sadleir, Ingrid E. Scheffer, Sherry Smith, Bendix Carstensen, John Carlin, Mary B. Connolly, Kevin Farrell

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 542 KB

english, 2008

9

EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

Lynette Grant Sadleir, Ingrid E. Scheffer, Sherry Smith, Bendix Carstensen, Kevin Farrell, Mary B. Connolly

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 489 KB

english, 2009

10

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

Peter S. Bergin, Tony Ip, Robert Sheehan, Richard W. Frith, Lynette G. Sadleir, Nicole McGrath, Annemarei Ranta, Elizabeth B. Walker

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

11

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

Danya F. Vears, Meng-Han Tsai, Lynette G. Sadleir, Bronwyn E. Grinton, Leasha M. Lillywhite, Patrick W. Carney, A. Simon Harvey, Samuel F. Berkovic, Ingrid E. Scheffer

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 80 KB

english, 2012

12

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree L. Hodgson, Xenia Iona, Lynette G. Sadleir, James Pelekanos, Eric Herlenius, Hadass

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2012

13

An international pilot study of an internet-based platform to facilitate clinical research in epilepsy: The EpiNet project

Peter Bergin, Lynette Sadleir, Benjamin Legros, Zarine Mogal, Manjari Tripathi, Nitika Dang, Simone Beretta, Clara Zanchi, Jorge Burneo, Thomas Borkowski, Yang Je Cho, Michel Ossemann, Pasquale Strian

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 127 KB

english, 2012

14

Family studies of individuals with eyelid myoclonia with absences

Sadleir, Lynette G., Vears, Danya, Regan, Brigid, Redshaw, Natalie, Bleasel, Andrew, Scheffer, Ingrid E.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 245 KB

english, 2012

15

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O'Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Sama

Journal:

Nature Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 548 KB

english, 2013

16

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

Mulley, John C., Hodgson, Bree, McMahon, Jacinta M., Iona, Xenia, Bellows, Susannah, Mullen, Saul A, Farrell, Kevin, Mackay, Mark, Sadleir, Lynette, Bleasel, Andrew, Gill, Deepak, Webster, Richard, Wi

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 75 KB

english, 2013

17

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

Sadleir, Lynette G., Agher, Dahbia, Chabrol, Elodie, Elkouby, Léa, Leguern, Eric, Paterson, Sarah J., Harty, Rosie, Bellows, Susannah T., Berkovic, Samuel F., Scheffer, Ingrid E., Baulac, Stéphanie

Journal:

Epilepsy Research

Année:

2013

Langue:

english

Fichier:

PDF, 938 KB

english, 2013

18

Automatisms in Absence Seizures in Children With Idiopathic Generalized Epilepsy

Sadleir, Lynette G., Scheffer, Ingrid E., Smith, Sherry, Connolly, Mary B., Farrell, Kevin

Journal:

Archives of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 126 KB

english, 2009

19

Familial Adult Myoclonic Epilepsy

Sadleir, Lynette G.

Journal:

Archives of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 320 KB

english, 2012

20

Clinical genetic study of the epilepsy-aphasia spectrum

Tsai, Meng-Han, Vears, Danya F., Turner, Samantha J., Smith, Robert L., Berkovic, Samuel F., Sadleir, Lynette G., Scheffer, Ingrid E.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 291 KB

english, 2013

21

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

Sadleir, Lynette G., Paterson, Sarah, Smith, Katherine R., Redshaw, Natalie, Ranta, Annemarei, Kalnins, Renate, Berkovic, Samuel F., Bahlo, Melanie, Hildebrand, Michael S., Scheffer, Ingrid E.

Journal:

Epilepsy Research

Année:

2015

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2015

22

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Ha, Thuong T., Sadleir, Lynette G., Mandelstam, Simone A., Paterson, Sarah J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 766 KB

english, 2016

23

Juvenile Alpers Disease

Wiltshire, Esko, Davidzon, Guido, DiMauro, Salvatore, Akman, Hasan O., Sadleir, Lynette, Haas, Lindsay, Zuccollo, Jane, McEwen, Alison, Thorburn, David R.

Journal:

Archives of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 189 KB

english, 2008

24

Optimizing Electroencephalographic Studies for Epilepsy Diagnosis in Children With New-Onset Seizures

Sadleir, Lynette G., Scheffer, Ingrid E.

Journal:

Archives of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 82 KB

english, 2010

25

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

Bergin, Peter S., Beghi, Ettore, Sadleir, Lynette G., Brockington, Alice, Tripathi, Manjari, Richardson, Mark P., Bianchi, Elisa, Srivastava, Kavita, Jayabal, Jayaganth, Legros, Benjamin, Ossemann, Mi

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 204 KB

english, 2017

26

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R.,

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 320 KB

english, 2017

27

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef

Journal:

Molecular Psychiatry

Année:

2018

Langue:

english

Fichier:

PDF, 871 KB

english, 2018

28

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cog

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2018

29

Efficacy of cannabinoids in paediatric epilepsy

Ali, Shayma, Scheffer, Ingrid E, Sadleir, Lynette G

Journal:

Developmental Medicine & Child Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 189 KB

english, 2018

30

Double somatic mosaicism in a child with Dravet syndrome

Muir, Alison M., King, Chontelle, Schneider, Amy L., Buttar, Aman S., Scheffer, Ingrid E., Sadleir, Lynette G., Mefford, Heather C.

Journal:

Neurology: Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 299 KB

english, 2019

31

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Sands, Tristan T., Miceli, Francesco, Lesca, Gaetan, Beck, Anita E., Sadleir, Lynette G., Arrington, Daniel K., Schönewolf‐Greulich, Bitten, Moutton, Sébastien, Lauritano, Anna, Nappi, Piera, Soldovie

Journal:

Annals of Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2019

32

Double somatic mosaicism in a child with Dravet syndrome

Muir, Alison M., King, Chontelle, Schneider, Amy L., Buttar, Aman S., Scheffer, Ingrid E., Sadleir, Lynette G., Mefford, Heather C.

Journal:

Neurology: Genetics

Année:

2019

Fichier:

PDF, 299 KB

2019

33

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

Malerba, Natascia, Benzoni, Patrizia, Squeo, Gabriella Maria, Milanesi, Raffaella, Giannetti, Federica, Sadleir, Lynette G., Poke, Gemma, Augello, Bartolomeo, Croce, Anna Irma, Barbuti, Andrea, Merla,

Journal:

Stem Cell Research

Année:

2019

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2019

34

Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, Rosemary, Wang, Shuyu, McTague, Amy, Boysen, Katja E., Yang, Xiaoling, Zeng, Qi, Myers, Kenneth A., Rochtus, Anne, Trivisano, Marina, Gill, Deepak, Sadleir, Lynette G., Specchio, Nicola, Guer

Journal:

Annals of Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2019

35

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

Myers, Kenneth A., van 't Hof, Femke N.G., Sadleir, Lynette G., Legault, Geneviève, Simard-Tremblay, Elisabeth, Amor, David J., Scheffer, Ingrid E.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 787 KB

english, 2019

36

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

Sadleir, Lynette G., Kolc, Kristy L., King, Chontelle, Mefford, Heather C., Dale, Russell C., Gecz, Jozef, Scheffer, Ingrid E.

Journal:

European Journal of Paediatric Neurology

Année:

2020

Fichier:

PDF, 878 KB

2020

37

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Sadleir, Lynette G., de VallesâIbÃ¡Ã±ez, Guillem, King, Chontelle, Coleman, Matthew, Mossman, Stuart, Paterson, Sarah, Nguyen, John, Berkovic, Samuel F., Mullen, Saul, Bahlo, Melanie, Hildebrand, Mi

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 556 KB

english, 2020

38

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., MÃ¸ller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz,

Journal:

Translational Psychiatry

Année:

2020

Fichier:

PDF, 1.33 MB

2020

39

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Bleakley, Lauren E., Soh, Ming S., Bagnall, Richard D., Sadleir, Lynette G., Gooley, Samuel, Semsarian, Christopher, Scheffer, Ingrid E., Berkovic, Samuel F., Reid, Christopher A.

Journal:

Frontiers in Neurology

Année:

2020

Fichier:

PDF, 510 KB

2020