Karen L Oliver

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata, Adriana Magaudda, Laura Licchetta, Alessandro Filla, Angela La Neve, Patrizia Riguzzi, Teresa Anna Cantisani, Martina Fanella, Barbara Castellotti, Cinzia Gellera, Melanie Bahlo, et al.

Book Chapter  |  2021  |  Neurology Genetics

Background and objectivesTo assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs)..

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata, Adriana Magaudda, Laura Licchetta, Alessandro Filla, Angela La Neve, Patrizia Riguzzi, Teresa Anna Cantisani, Martina Fanella, Barbara Castellotti, Cinzia Gellera, Melanie Bahlo, et al.

Journal article  |  2021  |  Neurol Genet

Background and Objectives: To assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PME..

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabinska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro Filla, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PM..

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Laure Mazzola, Karen L Oliver, Audrey Labalme, Betul Baykan, Mikko Muona, Tarja H Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel F Berkovic, Anna-Elina Lehesjoki, Gaetan Lesca

Journal article  |  2021  |  ANNALS OF NEUROLOGY

Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both familie..

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 1 (FAME1), first recognised in Japanese families, was recently shown to be caused by a TTTCA rep..

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Journal article  |  2019  |  ANNALS OF NEUROLOGY

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..

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

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

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

Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report si..