Epilepsy Sparks Insights

Torie Robinson
Epilepsy Sparks Insights Podcast

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**

  1. 8 AUG

    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

    15 min
  2. 1 AUG

    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

    16 min

About

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**

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