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.

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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 

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🔗 Website & more about Carla 👇

https://www.torierobinson.com/epilepsy-sparks-insights/carla-marini-glut1-disorder-metabolism-genetic 

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Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary 

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