Karen Oliver Broderick

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

No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy

Herbert Schulz, Ann-Kathrin Ruppert, Federico Zara, Francesca Madia, Michele Iacomino, Maria S Vari, Ganna Balagura, Carlo Minetti, Pasquale Striano, Amedeo Blanche, Carla Marini, Renzo Guerrini, Yvonne G Weber, Felicitas Becker, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rikke S Moller, Karen L Oliver, et al.

Journal article  |  2019  |  Epilepsia

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies s..

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli

Journal article  |  2019  |  Human Mutation

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Samuel F Berkovic, Karen L Oliver, Laura Canafoglia, Penina Krieger, John A Damiano, Michael S Hildebrand, Michela Morbin, Danya F Vears, Vito Sofia, Loretta Giuliano, Barbara Garavaglia, Alessandro Simonati, Filippo M Santorelli, Antonio Gambardella, Angelo Labate, Vincenzo Belcastro, Barbara Castellotti, Cigdem Ozkara, Adam Zeman, Julia Rankin, et al.

Journal article  |  2019  |  Brain

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, et al.

Journal article  |  2018  |  NATURE COMMUNICATIONS

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Demet Kinay, Karen L Oliver, Erdem Tuzun, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2018  |  Epilepsia

Analysis of shared heritability in common disorders of the brain

Verneri Anttila, Brendan Bulik-Sullivan, Hilary K Finucane, Raymond K Walters, Jose Bras, Laramie Duncan, Valentina Escott-Price, Guido J Falcone, Padhraig Gormley, Rainer Malik, Nikolaos A Patsopoulos, Stephan Ripke, Zhi Wei, Dongmei Yu, Phil H Lee, Patrick Turley, Benjamin Grenier-Boley, Vincent Chouraki, Yoichiro Kamatani, Claudine Berr, et al.

Journal article  |  2018  |  Science

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

ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies

Caitlin A Bennett, Slave Petrovski, Karen L Oliver, Samuel F Berkovic

Journal article  |  2017  |  Neurology Genetics

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

Saskia Freytag, Rosemary Burgess, Karen L Oliver, Melanie Bahlo

Journal article  |  2017  |  Genome Medicine

Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties

Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos D Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, Joao Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, et al.

Journal article  |  2017  |  Annals of Neurology

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood

Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2017  |  Epilepsy Research

SEIZURES AS PRESENTING AND PROMINENT SYMPTOM IN CHOREA-ACANTHOCYTOSIS WITH C.2343DEL VPS13A GENE MUTATION

F Benninger, A Zaid, AD Korczyn, KL Oliver, M Pendziwiat, M Nakamura, A Sano, I Helbig, SF Berkovic, I Blatt

Conference Proceedings  |  2016  |  EPILEPSIA

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole

Journal article  |  2016  |  NEUROLOGY

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Luethy, Mattea J Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Strazisar, J Lloyd Holder, Gaetan Lesca, Maria M Mancardi, Anne L Poulat, Gabriela M Repetto, Siddharth Banka, Leonilda Bilo, Laura E Birkeland, Friedrich Bosch, Knut Brockmann, J Helen Cross, Diane Doummar, et al.

Journal article  |  2016  |  NEUROLOGY

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation

Felix Benninger, Zaid Afawi, Amos D Korczyn, Karen L Oliver, Manuela Pendziwiat, Masayuki Nakamura, Akira Sano, Ingo Helbig, Samuel F Berkovic, Ilan Blatt

Journal article  |  2016  |  Epilepsia

Multiplex families with epilepsy Success of clinical and molecular genetic characterization

Zaid Afawi, Karen L Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y Neufeld, Katherine L Helbig, Hadassa Goldberg-Stern, Adel J Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H Wallace, et al.

Journal article  |  2016  |  NEUROLOGY

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

Karen L Oliver, Vesna Lukic, Saskia Freytag, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article  |  2016  |  Neurology Genetics

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

L Licchetta, F Bisulli, M Fietz, ML Valentino, M Morbin, B Mostacci, KL Oliver, SF Berkovic, P Tinuper

Journal article  |  2015  |  European Journal of Medical Genetics

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2015  |  Human Molecular Genetics

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, et al.

Journal article  |  2015  |  Nature Genetics

Using familial information for variant filtering in high-throughput sequencing studies

Melanie Bahlo, Rick Tankard, Vesna Lukic, Karen L Oliver, Katherine R Smith

Journal article  |  2014  |  Human Genetics

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Richard JL Anney, Andreja Avbersek, David Balding, Larry Baum, Felicitas Becker, Samuel F Berkovic, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Patrick Cossette, Gerrit-Jan de Haan, Peter De Jonghe, Carolien GF de Kovel, Norman Delanty, et al.

Journal article  |  2014  |  LANCET NEUROLOGY

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo

Journal article  |  2014  |  PLOS ONE

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

Martin Puskarjov, Patricia Seja, Sarah E Heron, Tristiana C Williams, Faraz Ahmad, Xenia Iona, Karen L Oliver, Bronwyn E Grinton, Laszlo Vutskits, Ingrid E Scheffer, Steven Petrou, Peter Blaesse, Leanne M Dibbens, Samuel F Berkovic, Kai Kaila

Journal article  |  2014  |  EMBO REPORTS

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2014  |  EPILEPSIA

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

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Zaid Afawi, Simone Mandelstam, Amos D Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L Oliver, Mark Corbett, Jozef Gecz, Samuel F Berkovic, Graeme D Jackson

Journal article  |  2013  |  Epilepsy Research

IDENTIFYING NOVEL PROGRESSIVE MYOCLONUS EPILEPSY GENES BY EXOME SEQUENCING

M Muona, SF Berkovic, LM Dibbens, T Joensuu, KL Oliver, MA Bayly, E Hamalainen, A Palotie, A-E Lehesjoki

Conference Proceedings  |  2013  |  EPILEPSIA

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Michael Steffens, Costin Leu, Ann-Kathrin Ruppert, Federico Zara, Pasquale Striano, Angela Robbiano, Giuseppe Capovilla, Paolo Tinuper, Antonio Gambardella, Amedeo Bianchi, Angela La Neve, Giovanni Crichiutti, Carolien GF de Kovel, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, Dick Lindhout, Verena Gaus, Bettina Schmitz, Dieter Janz, Yvonne G Weber, et al.

Journal article  |  2012  |  HUMAN MOLECULAR GENETICS

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

Journal article  |  2012  |  Nature Genetics

Benign Neonatal Sleep Myoclonus: An Autosomal Dominant Form Not Allelic to KCNQ2 or KCNQ3

Zaid Afawi, Haim Bassan, Sarah Heron, Karen Oliver, Rachel Straussberg, Ingrid Scheffer, Richard Leventer, Amos Korczyn, Samuel Berkovic

Journal article  |  2012  |  Journal of Child Neurology

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

Leanne M Dibbens, Bree L Hodgson, Katherine L Helbig, Karen L Oliver, John C Mulley, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  Epilepsy Research

Evolution of an Eurasian Avian-like Influenza Virus in Naive and Vaccinated Pigs

Pablo R Murcia, Joseph Hughes, Patrizia Battista, Lucy Lloyd, Gregory J Baillie, Ricardo H Ramirez-Gonzalez, Doug Ormond, Karen Oliver, Debra Elton, Jennifer A Mumford, Mario Caccamo, Paul Kellam, Bryan T Grenfell, Edward C Holmes, James LN Wood

Journal article  |  2012  |  PLoS Pathogens

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency

Zaid Afawi, Arvid Suls, Dana Ekstein, Sara Kivity, Miriam Y Neufeld, Karen Oliver, Peter De Jonghe, Amos D Korczyn, Samuel F Berkovic

Journal article  |  2010  |  Epilepsia

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E Gardner, Karen L Oliver, Stanley Tan, Amy Coffey, John C Mulley, Leanne M Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D Jackson, Samuel F Berkovic, Jozef Gecz

Journal article  |  2010  |  American Journal of Human Genetics

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

Sarah E Heron, Ingrid E Scheffer, Bronwyn E Grinton, Helen Eyre, Karen L Oliver, Sharon Bain, Samuel F Berkovic, John C Mulley

Journal article  |  2010  |  Epilepsia