Seizures Caused By Insufficient Glucose: GLUT1 Deficiency Disorder! - Carla Marini скачать в хорошем качестве

Seizures Caused By Insufficient Glucose: GLUT1 Deficiency Disorder! - 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. ------------------------------------------ 🎧 Listen to ESI on Spotify! 👇 https://open.spotify.com/show/14rwL06... Also on Apple Podcasts or anywhere else you listen! ----------------------------------------- Papers:👇 “Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy”: https://jamanetwork.com/journals/jama... “Early onset absence epilepsy due to mutations in the glucose transporter GLUT1”: https://www.researchgate.net/publicat... ----------------------------------------- 🔗 Website & more about Carla 👇 https://www.torierobinson.com/epileps... ----------------------------------------- Chapters 📖 00:00 Intro 01:28 Meet Carla 02:26 What is GLUT1 Deficiency Disorder? 04:35 Prevalence and Inheritance of GLUT1 Disorder 05:55 The Value of Patient Registries 07:22 Having The Same Mutation But Having Different Symptoms 09:31 Unexpected Discoveries 11:23 The Role and Application of the Ketogenic Diet 12:08 Precision Medicine and Individualised Treatment 13:25 Positive example of Patient on Ketogenic Diet 13:57 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:   / torierobinson10   LinkedIn:   / torierobinson   Instagram:   / torierobinson10   Facebook:   / torierobinsonspeaker   TikTok:   / torierobinson10   #GLUT1 #GLUT1DeficiencyDisorder #epilepsy #CarlaMarini #metabolicepilepsy #geneticepilepsy