Epilepsy Sparks Insights

Torie Robinson

Led by Torie Robinson, ”Epilepsy Sparks Insights” is an educational podcast to spark interest in and bridge the gap between epilepsy patients, clinicians, scientists, geneticists – and the world. Follow on Twitter: @TorieRobinson10 & @EpilepsySparks. Visit www.torierobinson.com & www.epilepsysparks.com. **NOT FOR CLINICAL OR PATIENT DECISION MAKING** read less
Health & FitnessHealth & Fitness
ScienceScience
MedicineMedicine
Life SciencesLife Sciences

Episodes

The Power of Collaboration in Epilepsy Research - Eduardo Pérez Palma
17-10-2024
The Power of Collaboration in Epilepsy Research - Eduardo Pérez Palma
Eduardo Pérez Palma, a neurogenetics scientist and bioinformatician, discusses his work in neurogenetics and epilepsy research, emphasising the importance global collaboration in studying the epilepsies in different parts of the world! Eduardo also shares the upcoming Latin American Congress on Genetic Epilepsiesin Jan 2025; which aims to bring together experts from various fields to share knowledge and perspectives! ------------------------------------------ 🔗 Website & more about Eduardo: 👇🏻 https://www.torierobinson.com/epilepsy-sparks-insights/eduardo-perez-palma-neurogenetics-dee-latin-america  ----------------------------------------- Chapters 📖 - Intro to Eduardo - The Value of Genetic Testing in Epilepsy - Diversity and Representation in Genetic Research - Understanding Developmental Epileptic Encephalopathies (DEEs) - Contributing to Epilepsy Research - Latin American Congress on Epileptsy Genetics - Conclusion & thanks ----------------------------------------- Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇🏻 https://www.epilepsysparks.com/glossary  ------------------------------------------ 📲 Join me on social media! - X: https://twitter.com/torierobinson10  - LinkedIn: https://www.linkedin.com/torierobinson  - Instagram: https://www.instagram.com/torierobinson10  - Facebook: https://www.facebook.com/TorieRobinsonSpeaker  - TikTok: https://www.tiktok.com/@torierobinson10    #genetics #neurogenetics #exomesequencing #epilepsy
Seizures Caused By Insufficient Glucose! - Carla Marini
08-08-2024
Seizures Caused By Insufficient Glucose! - Carla Marini
A mutation of a gene can lead to lack of absorption of glucose (our fuel) and cause epilepsy! Carla Marini, a paediatric neurologist and neuropsychiatrist tells us all about the rare epilepsy and metabolic disorder GLUT1 Deficiency Syndrome, emphasising the importance of early diagnosis, treatment using the ketogenic diet (which can help control seizures, improve cognitive function, and decrease the impacts of movement disorders). She also highlights the value of working closely with patient and family groups to understand the clinical manifestations and natural history of the disease. Carla shares an uplifting success story of a patient who has thrived with early intervention. ------------------------------------------ Papers mentioned 👇 “Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy”: https://jamanetwork.com/journals/jamaneurology/fullarticle/1107863  “Early onset absence epilepsy due to mutations in the glucose transporter GLUT1”: https://www.researchgate.net/publication/26864996_Early_onset_absence_epilepsy_due_to_mutations_in_the_glucose_transporter_GLUT1  ----------------------------------------- 🔗 Website & more about Carla 👇 https://www.torierobinson.com/epilepsy-sparks-insights/carla-marini-glut1-disorder-metabolism-genetic  ----------------------------------------- Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary  ------------------------------------------ 📲 Join me on social media! - X: https://twitter.com/torierobinson10   - LinkedIn: https://www.linkedin.com/torierobinson   - Instagram: https://www.instagram.com/torierobinson10   - Facebook: https://www.facebook.com/TorieRobinsonSpeaker   - TikTok: https://www.tiktok.com/@torierobinson10
The Importance of Genetic Testing For Epilepsies - Nazanin Azarinejad Mohammadi
01-08-2024
The Importance of Genetic Testing For Epilepsies - Nazanin Azarinejad Mohammadi
Neuroscientist Nazanin Azarinejad Mohammadi discusses her research on epilepsy genetics, the clinical and functional characterisation of GABAA-receptor related disorders, and how mutations in the GABAA-receptor subunits can lead to epilepsy and morbidities. Nazanin also highlights the variability in symptoms among individuals with the same mutation and the need for further research to understand the factors that contribute to this variability. Plus, emphasised is the importance of genetic testing and personalised treatment for patients with these mutations. ----------------------------------------- Paper: “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” 👇 https://portal.findresearcher.sdu.dk/en/publications/clinical-and-functional-characterization-of-gabaa-receptor-relate  ----------------------------------------- 🔗 Website & more about Nazanin 👇 https://www.torierobinson.com/epilepsy-sparks-insights/nazanin-azarinejad-mohammadi-genetic-testing-personalised-treatment-GABA-receptors  ----------------------------------------- Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary ----------------------------------------- 📲 Join me on social media! - X: https://twitter.com/torierobinson10  - LinkedIn: https://www.linkedin.com/torierobinson  - Instagram: https://www.instagram.com/torierobinson10  - Facebook: https://www.facebook.com/TorieRobinsonSpeaker  - TikTok: https://www.tiktok.com/@torierobinson10
Cenobamate: Benefits & Risks - Ricardo Morcos
25-07-2024
Cenobamate: Benefits & Risks - Ricardo Morcos
As well as preventing up to 100% of seizures in 20% of those with refractory focal epilepsy, Cenobamate may also (indirectly), positively impact mental health, cognitive function and reduce seizure propagation. Ricardo Morcos shares information on the titration of Cenobamate, how it is not suitable during pregnancy, and the importance of a 1:1 clinician-patient relationship. This is part 2 of 2. Please note that this is not an endorsement of any particular anti-seizure medication (Cenobamate or any of the others mentioned) and any questions or ideas from a patient or carer must be brought up with one’s neurologist/epileptologist. ------------------------------------------ Spanish consensus on the management of concomitant anti-seizure medications when using Cenobamate in adults with drug-resistant focal seizures 👇 https://www.researchgate.net/publication/379572148_Spanish_consensus_on_the_management_of_concomitant_antiseizure_medications_when_using_cenobamate_in_adults_with_drug-resistant_focal_seizures  ------------------------------------------ 🔗 Website & more about Ricardo 👇 https://www.torierobinson.com/epilepsy-sparks-insights/ricardo-mocos-starting-cenobamate-cognition-pregnancy  ----------------------------------------- Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary  ------------------------------------------ 📲 Join me on social media! - X: https://twitter.com/torierobinson10  - LinkedIn: https://www.linkedin.com/torierobinson  - Instagram: https://www.instagram.com/torierobinson10  - Facebook: https://www.facebook.com/TorieRobinsonSpeaker  - TikTok: https://www.tiktok.com/@torierobinson10
Cenobamate: A Game Changer For Epilepsy? - Ricardo Mocos
18-07-2024
Cenobamate: A Game Changer For Epilepsy? - Ricardo Mocos
As well as preventing up to 100% of seizures in 20% of those with refractory focal epilepsy, Cenobamate may also (indirectly), positively impact mental health, cognitive function and reduce seizure propagation. Ricardo Morcos shares information on the titration of Cenobamate, pregnancy, and the importance of a 1:1 clinician-patient relationship. This is part 2 of 2. Please note that this is not an endorsement of any particular anti-seizure medication (Cenobamate or any of the others mentioned) and any questions or ideas from a patient or carer must be brought up with one’s neurologist/epileptologist. ------------------------------------------ Spanish consensus on the management of concomitant anti-seizure medications when using Cenobamate in adults with drug-resistant focal seizures https://www.researchgate.net/publication/379572148_Spanish_consensus_on_the_management_of_concomitant_antiseizure_medications_when_using_cenobamate_in_adults_with_drug-resistant_focal_seizures  ------------------------------------------ 🔗 Website & more about Ricardo 👇 https://www.torierobinson.com/epilepsy-sparks-insights/ricardo-mocos-cenobamate-game-changer-for-epilepsy  ----------------------------------------- Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary  ------------------------------------------ 📲 Join me on social media! - X: https://twitter.com/torierobinson10  - LinkedIn: https://www.linkedin.com/torierobinson  - Instagram: https://www.instagram.com/torierobinson10  - Facebook: https://www.facebook.com/TorieRobinsonSpeaker  - TikTok: https://www.tiktok.com/@torierobinson10    #cenobamate #focalepilepsy #partialseizures #epilepsy #RicardoMocos