Amy Schneider

Contribution of rare genetic variants to drug response in absence epilepsy.

Kenneth A Myers, Mark F Bennett, Bronwyn E Grinton, Gabriel Dabscheck, Eunice K Chan, Luis E Bello-Espinosa, Lynette G Sadleir, Sabrina D'Alfonso, Amy L Schneider, John A Damiano, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic, Jeffrey Buchhalter, Ingrid E Scheffer

Journal article  |  2021  |  Epilepsy Research

OBJECTIVE: We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide ..

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, M Scott Perry, Lance Rodan, Katherine L Helbig, Chelsea Chambers, Kathleen M Gorman, Mary D King, Sandra Donkervoort, Ariane Soldatos, Carsten G Bonnemann, Nino Spataro, Elisabeth Gabau, Montserrat Arellano, Gerarda Cappuccio, Nicola Brunetti-Pierri, Elsa Rossignol, et al.

Journal article  |  2020  |  Epilepsia

Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies...

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C Aoto, Erik MF Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F Bennett, Amy L Schneider, et al.

Journal article  |  2020  |  American Journal of Human Genetics

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme tha..

Cognitive, behavioral,and social functioning in children and adults with Dravet syndrome

Amy Brown, Marta Arpone, Amy L Schneider, Silvana Micallef, Vicki A Anderson, Ingrid E Scheffer

Journal article  |  2020  |  Epilepsy & Behavior

AIM: The objective of the study was to delineate the cognitive, behavioral, psychological, and social functioning of individuals w..

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