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Your search keyword '"Cameron, Jillian"' showing total 4 results
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4 results on '"Cameron, Jillian"'

1. 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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2. 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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3. 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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4. ILAE Genetics Literacy series: Progressive myoclonus epilepsies.

Author

Cameron JM, Ellis CA, and Berkovic SF

Subjects
Humans, Literacy, Ataxia, Myoclonic Epilepsies, Progressive genetics, Myoclonic Epilepsies, Progressive diagnosis, Unverricht-Lundborg Syndrome, Myoclonus
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)., (© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Published
2023
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