Brigid Regan

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

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

Polygenic burden in focal and generalized epilepsies.

Costin Leu, Remi Stevelink, Alexander W Smith, Slavina B Goleva, Masahiro Kanai, Lisa Ferguson, Ciaran Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M Sisodiya, Gianpiero L Cavalleri, Bobby PC Koeleman, Holger Lerche, Lara Jehi, Lea K Davis, Imad M Najm, Aarno Palotie, Mark J Daly, Robyn M Busch, undefined Epi25 Consortium, et al.

Journal article  |  2019  |  Brain

Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The..

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 ..

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz J Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H Willemsen, Bregje W van Bon, Tuula Rinne, Servi JC Stevens, Tjitske Kleefstra, Han G Brunner, Helger G Yntema, et al.

Journal article  |  2019  |  Nature Communications

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

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

Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Rita Barone, Lorenzo D Botto, Jennifer E Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S Cohen, David Coman, Katrina M Dipple, Naghmeh Dorrani, William B Dobyns, Abdallah F Elias, Leon Epstein, William A Gahl, Domenico Garozzo, Trine Bjorg Hammer, et al.

Journal article  |  2019  |  Human Mutation

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for..

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

Samuel F Berkovic, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Gianpiero Cavalleri, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto, Susannah Cornes, et al.

Journal article  |  2019  |  Epilepsia

OBJECTIVE: The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a centrally managed database of clinically generate..

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

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

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

Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade

Journal article  |  2017  |  JAMA Neurology

Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV..

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Candace T Myers, Nicholas Stong, Emily I Mountier, Katherine L Helbig, Saskia Freytag, Joseph E Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N Shinde, Arezoo Rezazadeh, Brigid M Regan, Karen L Oliver, Michelle E Ernst, Natalie C Lippa, Maureen S Mulhern, Zhong Ren, Annapurna Poduri, Danielle M Andrade, et al.

Journal article  |  2017  |  The American Journal of Human Genetics

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

Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan

Journal article  |  2017  |  Epilepsy Research

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, et al.

Journal article  |  2017  |  The Lancet Neurology

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

Journal article  |  2016  |  NEUROLOGY

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

Richard D Bagnall, Douglas E Crompton, Slave Petrovski, Lien Lam, Carina Cutmore, Sarah I Garry, Lynette G Sadleir, Leanne M Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M Regan, Johan Duflou, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

Journal article  |  2016  |  Annals of Neurology

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, et al.

Journal article  |  2015  |  Annals of Clinical and Translational Neurology

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

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Brigid M Regan, Martha Feucht, Hannelore Steinboeck, Birgit Neophytou, Gabriel M Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, et al.

Journal article  |  2014  |  Human Molecular Genetics

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Richard D Bagnall, Douglas E Crompton, Carina Cutmore, Brigid M Regan, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

Journal article  |  2014  |  Neurology

MUTATIONS IN DEPDC5 ARE A MAJOR CAUSE OF LESIONAL AND NON-LESIONAL FOCAL EPILEPSY

LM Dibbens, IE Scheffer, BM Regan, S Mandelstam, DE Crompton, BL Hodgson, L Licchetta, F Provini, F Bisulli, L Vadlamudi, J Gecz, A Connelly, P Tinuper, MG Ricos, SF Berkovic, SE Heron

Conference Proceedings  |  2014  |  EPILEPSIA

Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations

Ingrid E Scheffer, Sarah E Heron, Brigid M Regan, Simone Mandelstam, Douglas E Crompton, Bree L Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G Ricos, Samuel F Berkovic, Leanne M Dibbens

Journal article  |  2014  |  ANNALS OF NEUROLOGY

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O'Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, et al.

Journal article  |  2013  |  NATURE GENETICS

The Epilepsy Phenome/Genome Project

Catharine Freyer Karn, Kathleen McGovern, Nora Stillman, Kevin McKenna, Vickie Mays, Michael Williams, Alan Carpenter, Kevin Miller, Prashant Agarwal, Jennifer Ayala, Cate Bakey, Thomas Borkowski, Riann Boyd, Alicia Camuto, Cendy Carrasco, Jennifer Cassarly, Yong Collins, Kevin Collon, Sean Collon, Heather Eckman, et al.

Journal article  |  2013  |  Clinical Trials: journal of the society for clinical trials

EPILEPSY-APHASIA SPECTRUM DISORDERS ARE CAUSED BY MUTATIONS IN GRIN2A

GL Carvill, BM Regan, SC Yendle, BJ O'Roak, A Khan, J Cook, LG Sadleir, SJ Turner, M-H Tsai, R Webster, R Ouvrier, J Damiano, SF Berkovic, J Shendure, M Hildebrand, IE Scheffer, HC Mefford

Conference Proceedings  |  2013  |  EPILEPSIA

MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY

LM Dibbens, B de Vries, S Donatello, SE Heron, BL Hodgson, S Chintawar, DE Crompton, JN Hughes, ST Bellows, KM Klein, PM Callenbach, MA Corbett, AE Gardner, S Kivity, X Iona, BM Regan, CM Weller, D Crimmins, T O'Brien, R Guerrero-Lopez, et al.

Conference Proceedings  |  2013  |  EPILEPSIA

Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy

Massimo Pandolfo, Leanne Dibbens, Boukje de Vries, Simona Donatello, Sarah Heron, Bree Hodgson, Satyan Chintawar, Douglas Crompton, James Hughes, Susannah Bellows, Karl Martin Klein, Petra Callenbach, Mark Corbett, Alison Gardner, Sarah Kivity, Xenia Iona, Brigid Regan, Claudia Weller, Denis Crimmins, Terence O'Brien, et al.

Conference Proceedings  |  2013  |  NEUROLOGY

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M Dibbens, Boukje de Vries, Simona Donatello, Sarah E Heron, Bree L Hodgson, Satyan Chintawar, Douglas E Crompton, James N Hughes, Susannah T Bellows, Karl Martin Klein, Petra MC Callenbach, Mark A Corbett, Alison E Gardner, Sara Kivity, Xenia Iona, Brigid M Regan, Claudia M Weller, Denis Crimmins, Terence J O'Brien, Rosa Guerrero-Lopez, et al.

Journal article  |  2013  |  Nature Genetics

Family studies of individuals with eyelid myoclonia with absences

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

Journal article  |  2012  |  Epilepsia