Amy Schneider

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article  |  2020  |  European Journal of Human Genetics

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Claire Bar, Giulia Barcia, Melanie Jennesson, Gwenael Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gerard, Herve Isnard, Alice Poisson, Sophie Dupont, Patrick Berquin, Pierre Meyer, et al.

Journal article  |  2020  |  Human Mutation

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Var..

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Ingrid E Scheffer, Katja E Boysen, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Anne M Rochtus, Yuet-Ping Yuen, Gabriel Ronen, Wai Km Chak, Deepak Gill, Annapurna Poduri, Heather C Mefford

Journal article  |  2019  |  Developmental Medicine & Child Neurology

SCN1A Variants in vaccine-related febrile seizures: A prospective study

John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..

Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia

MF Bennett, H Rafehi, KL Oliver, AL Schneider, BM Regan, ST Bellows, MA Corbett, T Kroes, J Gecz, MS Hildebrand, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings  |  2019  |  EPILEPSIA

Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort

MF Bennett, RM Tankard, CA Bennett, AL Schneider, BM Regan, JA Damiano, MS Hildebrand, LG Sadleir, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings  |  2019  |  EPILEPSIA

Expanding The Clinical Spectrum Of WWOX Encephalopathy

KL Oliver, M Hildebrand, S Mullen, M Bennett, D Crompton, D Francis, A Schneider, C Bennett, M Coleman, M Wallace, C Michael, J Pinner, S Turner, A Morgan, B Melanie, S Berkovic, IE Scheffer

Conference Proceedings  |  2019  |  EPILEPSIA

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

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, et al.

Journal article  |  2019  |  Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and ..

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

Rima Nabbout, Stephane Auvin, Catherine Chiron, Elizabeth Thiele, Helen Cross, Ingrid E Scheffer, Amy L Schneider, Renzo Guerrini, Nicola Williamson, John Irwin, Arun Mistry, Nicola Williamson, Rebecca Grimes, Bryan Bennett

Journal article  |  2019  |  Developmental Medicine & Child Neurology

AIM: To assess the relevance and generalizability across countries of concepts of the impact of Dravet syndrome beyond seizures, a..

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, et al.

Journal article  |  2019  |  Nature Communications

Double somatic mosaicism in a child with Dravet syndrome

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

Journal article  |  2019  |  Neurology Genetics

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J Carss, Emily Bryant, Adi Reich, Amy L Schneider, Ronit M Pressler, Michael A Simpson, Geoff D Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R Paciorkowski, Mary D King, J Helen Cross, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, J Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L Schneider, Georgie Hollingsworth, Dylan H Holder, Brigid M Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E Martina Bebin, John Nguyen, Gregory S Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel E Berkovic, et al.

Journal article  |  2018  |  The American Journal of Human Genetics

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey

Journal article  |  2018  |  Epilepsia

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Nicolas Chatron, Rikke S Moller, Neena L Champaigne, Amy L Schneider, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik-Jan Kamsteeg, Rolph Pfundt, Corrado Romano, Johan Aronsson, Antonino Alberti, Mirella Vinci, Maria J Miranda, Amy Lacroix, Dragan Marjanovic, Vincent des Portes, Patrick Edery, et al.

Journal article  |  2018  |  Annals of Neurology

Parental Mosaicism in "De Novo" Epileptic Encephalopathies

Candace T Myers, Georgina Hollingsworth, Alison M Muir, Amy L Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G Mehaffey, Samuel F Berkovic, Gemma L Carvill, Lynette G Sadleir, Ingrid E Scheffer, Heather C Mefford

Journal article  |  2018  |  New England Journal of Medicine

Sleep problems in Dravet syndrome: a modifiable comorbidity

Shane H Licheni, Jacinta M Mcmahon, Amy L Schneider, Margot J Davey, Ingrid E Scheffer

Journal article  |  2018  |  Developmental Medicine & Child Neurology

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Gemma L Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C Mefford, Ingrid E Scheffer

Journal article  |  2018  |  Epilepsia

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

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, et al.

Journal article  |  2017  |  The American Journal of Human Genetics

Mortality in Dravet syndrome

Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie, Ailsa McLellan, James Pelekanos, Venkateswaran Ramesh, Lynette Sadleir, Elaine Wirrell, Ingrid E Scheffer

Journal article  |  2016  |  Epilepsy Research

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Candace T Myers, Jacinta M McMahon, Amy L Schneider, Slave Petrovski, Andrew S Allen, Gemma L Carvill, Matthew Zemel, Julia E Say-Kally, Amy J LaCroix, Erin L Heinzen, Georgina Hollingsworth, Marina Nikanorova, Mark Corbett, Jozef Gecz, David Coman, Jeremy Freeman, Sophie Calvert, Deepak Gill, Patrick Carney, Tally Lerman-Sagie, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slave Petrovski, Sebastien Kury, Candace T Myers, Kwame Anyane-Yeboa, Benjamin Cogne, Martin Bialer, Fan Xia, Parisa Hemati, James Riviello, Michele Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding-Byth, Amy L Schneider, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Epileptic spasms are a feature of DEPDC5 mTORopathy

Gemma L Carvill, Douglas E Crompton, Brigid M Regan, Jacinta M McMahon, Julia Saykally, Matthew Zemel, Amy L Schneider, Leanne Dibbens, Katherine B Howell, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Saul A Mullen, Samuel F Berkovic, Joseph Sullivan, Ingrid E Scheffer, Heather C Mefford

Journal article  |  2015  |  Neurology Genetics

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L Smith, Richard J Leventer, Rikke S Moller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, et al.

Journal article  |  2015  |  The American Journal of Human Genetics

CHD2 variants are a risk factor for photosensitivity in epilepsy

Elizabeth C Galizia, Candace T Myers, Costin Leu, Carolien GF de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G Martins, Maxime Jacmin, Suzanne Drury, V Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S Moller, Holger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nuernberg, et al.

Journal article  |  2015  |  Brain

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk

Journal article  |  2015  |  PLOS Genetics