Genetic Literacy

Advances in epilepsy genetics have been rapid, and it is challenging for clinicians on the ground to keep pace with these advances. The ILAE Genetics Commission and the ILAE Genetic Literacy Task Force have thus crafted a new Genetic Literacy series targeted at busy clinicians. Our goal is to help provide a concise, accessible resource on epilepsy genetics for the busy, on-the-ground clinician so that he/she can apply that knowledge at point-of-care to help patients. This new series is grounded in educational theories and evidence to ensure that learning is effective and efficient. We hope that by promoting and encouraging continuing medical education in epilepsy genetics, this eventually translates to better patient management and therefore better patient health outcomes.

Genetic Literacy in Epilepsy Series

Genetic Literacy - new series thumbnail Table 1: Topics in the Genetic Literacy series
 Improving your genetic literacy in epilepsy—A new series, Epilepsia (2015)
Nigel CK. Tan, Daniel H. Lowenstein, on behalf of the ILAE Genetics Commission
Genetic Literacy - primer part 1 thumbnail Figure 4: Ranges of sizes for variants related to epilepsy: from single base pairs to chromosomes.
 Primer Part 1—The building blocks of epilepsy genetics, Epilepsia (2016)
Ingo Helbig, Erin L. Heinzen, Heather C. Mefford, the ILAE Genetics Commission
Genetic Literacy - primer part 2 thumbnail Figure 2: Human Genome Variation Society (http://varnomen.hgvs.org/) nomenclature for the SCN2A variant identified in the patient
 Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics, Epilepsia (2018)
Ingo Helbig, Erin L. Heinzen, Heather C. Mefford, on behalf of the International League Against Epilepsy Genetics Commission
Genetic Literacy - generalized thumbnail
Genetic generalized epilepsies, Epilepsia (2018)
Saul A. Mullen, Samuel F. Berkovic, on behalf of the ILAE Genetics Commission
Epileptic Disorders No 2
 A new home for the Genetic Literacy series, Epileptic Disorders (2018)
Nigel CK. Tan, Samuel F. Berkovic, Daniel H. Lowenstein
Genetic Literacy - febrile seizures plus thumbnail Figure 1: Genogram for the case study (the proband is indicated by the arrow). FS: febrile seizures.
 Genetic literacy series: genetic epilepsy with febrile seizures plus, Epileptic Disorders (2018)
Kenneth A. Myers, Ingrid E. Scheffer, Samuel F. Berkovic, on behalf of the ILAE Genetics Commission
Genetic Literacy - pharmacogenetics thumbnail Table 1: Adverse effects of antiepileptic drugs based on a modified version of the WHO classification
 Genetic literacy series: clinical application of pharmacogenetics for adverse reactions to antiepileptic drugs, Epileptic Disorders (2019)
Zhongbin Zhang, Ye Wu, Nigel CK. Tan, Yuwu Jiang, and the ILAE Genetics Commission
Genetic Literacy - familial focal thumbnail Table 1: Genes definitely implicated in familial focal epilepsy syndromes
 ILAE Genetic Literacy Series: familial focal epilepsy syndromes, Epileptic Disorders (2022)
Samuel Gooley, Douglas E. Crompton, Samuel F. Berkovic, on behalf of the ILAE Genetics Literacy Taskforce
Genetic Literacy - Self limited thumbnail Table 1: Self-limited familial epilepsy syndrome characteristics and the most commonly associated genes

ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy, Epileptic Disorders (2023)
Charissa Millevert, Sarah Weckhuysen, for the ILAE Genetics Commission
Genetic Literacy - postmorterm thumbnail Table 1: Overlapping features of unexplained sudden cardiac death and SUDEP
 ILAE Genetic Literacy Series: Postmorterm Genetic Testing in Sudden Unexpected Death in Epilepsy, Epileptic Disorders (2023)
Richard D. Bagnall, Piero Perucca, The ILAE Genetics Commission
History & Examination - EEG MRI > PME suspected > Genetic testing > Diagnostic (STOP) / Non-diagnostic > Ancillary Tests Enyme Assays Skin Biopsy
 ILAE Genetics Literacy series: Progressive myoclonus epilepsies, Epileptic Disorders (2023)
Jillian M. Cameron,  Colin A. Ellis, Samuel F. Berkovic, for the ILAE Genetics Commission, the ILAE Genetic Literacy Task Force