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3. Comparison of socio-economic determinants of COVID-19 testing and positivity in Canada: A multi-provincial analysis

Author

Antonova, Lilia, primary, Somayaji, Chandy, additional, Cameron, Jillian, additional, Sirski, Monica, additional, Sundaram, Maria E., additional, McDonald, James Ted, additional, Mishra, Sharmistha, additional, Kwong, Jeffrey C., additional, Katz, Alan, additional, Baral, Stefan, additional, Caulley, Lisa, additional, Calzavara, Andrew, additional, Corsten, Martin, additional, and Johnson-Obaseki, Stephanie, additional

Published
2023
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4. Recognition and Epileptology of Protracted CLN3 Disease

Author

Cameron, Jillian M., primary, Damiano, John A., additional, Grinton, Bronwyn, additional, Carney, Patrick W., additional, McKelvie, Penny, additional, Silbert, Peter, additional, Lawn, Nicholas, additional, Scheffer, Ingrid E., additional, Oliver, Karen L., additional, Hildebrand, Michael S., additional, and Berkovic, Samuel F., additional

Published
2023
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6. IRF2BPL: A new genotype for progressive myoclonus epilepsies

Author

Costa, Cinzia, primary, Oliver, Karen L., additional, Calvello, Carmen, additional, Cameron, Jillian M., additional, Imperatore, Valentina, additional, Tonelli, Laura, additional, Colavito, Davide, additional, Franceschetti, Silvana, additional, Canafoglia, Laura, additional, Berkovic, Samuel F., additional, and Prontera, Paolo, additional

Published
2023
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7. ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Author

Cameron, Jillian M., Ellis, Colin A., Berkovic, Samuel F., Perucca, Piero, Cross, J. Helen, Lerche, Holger, Esterhuizen, Alina I., Lopes‐Cendes, Iscia, Tsai, Meng‐Han, Lowenstein, Daniel H., Tan, Nigel C. K., Helbig, Ingo, Mefford, Heather C., Brunklaus, Andreas, Lesca, Gaetan, Palmer, Elizabeth Emma, McTague, Amy, Fakhfakh, Faiza, Delanty, Norman, Lowenstein, Daniel H., Tan, Nigel C. K., and Esterhuizen, Alina I.

Abstract

Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).

Published
2023
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8. A recessive ataxia diagnosis algorithm for the next generation sequencing era

Author

Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, and Young, Millie

Published
2017
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9. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Author

Courage, Carolina, primary, Oliver, Karen L., additional, Park, Eon Joo, additional, Cameron, Jillian M., additional, Grabińska, Kariona A., additional, Muona, Mikko, additional, Canafoglia, Laura, additional, Gambardella, Antonio, additional, Said, Edith, additional, Afawi, Zaid, additional, Baykan, Betul, additional, Brandt, Christian, additional, di Bonaventura, Carlo, additional, Chew, Hui Bein, additional, Criscuolo, Chiara, additional, Dibbens, Leanne M., additional, Castellotti, Barbara, additional, Riguzzi, Patrizia, additional, Labate, Angelo, additional, Filla, Alessandro, additional, Giallonardo, Anna T., additional, Berecki, Geza, additional, Jackson, Christopher B., additional, Joensuu, Tarja, additional, Damiano, John A., additional, Kivity, Sara, additional, Korczyn, Amos, additional, Palotie, Aarno, additional, Striano, Pasquale, additional, Uccellini, Davide, additional, Giuliano, Loretta, additional, Andermann, Eva, additional, Scheffer, Ingrid E., additional, Michelucci, Roberto, additional, Bahlo, Melanie, additional, Franceschetti, Silvana, additional, Sessa, William C., additional, Berkovic, Samuel F., additional, and Lehesjoki, Anna-Elina, additional

Published
2021
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11. Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Author

Cameron, Jillian M., primary, Maljevic, Snezana, additional, Nair, Umesh, additional, Aung, Ye Htet, additional, Cogné, Benjamin, additional, Bézieau, Stéphane, additional, Blair, Edward, additional, Isidor, Bertrand, additional, Zweier, Christiane, additional, Reis, André, additional, Koenig, Mary Kay, additional, Maarup, Timothy, additional, Sarco, Dean, additional, Afenjar, Alexandra, additional, Huq, A. H. M. Mahbubul, additional, Kukolich, Mary, additional, Billette de Villemeur, Thierry, additional, Nava, Caroline, additional, Héron, Bénédicte, additional, Petrou, Steven, additional, and Berkovic, Samuel F., additional

Published
2019
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12. Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Author

Leanne M. Dibbens, Anna-Elina Lehesjoki, Roberto Michelucci, Aarno Palotie, Barbara Castellotti, Jillian M. Cameron, Amos D. Korczyn, Loretta Giuliano, Davide Uccellini, Alessandro Filla, Edith Said, Karen Oliver, Zaid Afawi, William C. Sessa, Hui Bein Chew, Silvana Franceschetti, Carlo Di Bonaventura, Eva Andermann, Anna Teresa Giallonardo, Angelo Labate, Samuel F. Berkovic, Betül Baykan, Kariona A. Grabińska, Carolina Courage, Patrizia Riguzzi, Melanie Bahlo, Antonio Gambardella, John A. Damiano, Laura Canafoglia, Tarja Joensuu, Pasquale Striano, Christopher B. Jackson, Mikko Muona, Christian Brandt, Chiara Criscuolo, Sara Kivity, Eon Joo Park, Ingrid E. Scheffer, Géza Berecki, HUSLAB, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE, Courage, Carolina, Oliver, Karen L, Park, Eon Joo, Cameron, Jillian M, Dibbens, Leanne M, and Lehesjoki, Anna Elina

Subjects
0301 basic medicine, Male, Glycosylation, medicine.disease_cause, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, Dolichols, whole-exome sequencing, Age of Onset, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, 1184 Genetics, developmental biology, physiology, dolichol-dependent glycosylation, Middle Aged, 3. Good health, Child, Preschool, ASAH1, Female, medicine.symptom, Adult, Adolescent, DNA Copy Number Variations, Progressive myoclonus epilepsy, Biology, progressive myoclonus epilepsy, Article, 03 medical and health sciences, Young Adult, Progressive, Myoclonic Epilepsies, Exome Sequencing, medicine, Humans, epilepsy genetics, Preschool, Gene, Genetic heterogeneity, Intron, Introns, Myoclonic Epilepsies, Progressive, medicine.disease, 030104 developmental biology, 3111 Biomedicine, Myoclonus, 030217 neurology & neurosurgery
Abstract

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencing (WES) in 84 (78 unrelated) unsolved PME-affected individuals, with or without additional family members, to discover novel causes. We identified likely disease-causing variants in 24 out of 78 (31%) unrelated individuals, despite previous genetic analyses. The diagnostic yield was significantly higher for individuals studied as trios or families (14/28) versus singletons (10/50) (OR = 3.9, p value = 0.01, Fisher's exact test). The 24 likely solved cases of PME involved 18 genes. First, we found and functionally validated five heterozygous variants in NUS1 and DHDDS and a homozygous variant in ALG10, with no previous disease associations. All three genes are involved in dolichol-dependent protein glycosylation, a pathway not previously implicated in PME. Second, we independently validate SEMA6B as a dominant PME gene in two unrelated individuals. Third, in five families, we identified variants in established PME genes; three with intronic or copy-number changes (CLN6, GBA, NEU1) and two very rare causes (ASAH1, CERS1). Fourth, we found a group of genes usually associated with developmental and epileptic encephalopathies, but here, remarkably, presenting as PME, with or without prior developmental delay. Our systematic analysis of these cases suggests that the small residuum of unsolved cases will most likely be a collection of very rare, genetically heterogeneous etiologies. Refereed/Peer-reviewed

Published
2020

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