Epileptologist Eddie Chengo from Kenya discusses the stigma faced by people affected by epilepsy in Africa, explaining that around 75% of people with epilepsy in the region experience stigma and emphasising the importance of addressing this whilst implementing medical treatment. Eddie also shares the various initiatives and research projects his organisation is undertaking to raise awareness and challenge the stigma associated with epilepsy.

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🔗 Eddie's papers 👇

https://www.researchgate.net/scientific-contributions/Eddie-Chengo-44151310

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🔗 Website & more about Eddie 👇

https://www.torierobinson.com/epilepsy-sparks-insights/eddie-chengo-epilepsy-stigma-kenya

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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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#epilepsy #neurology #stigma #discrimination

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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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.

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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

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🔗 Website & more about Nazanin 👇

https://www.torierobinson.com/epilepsy-sparks-insights/nazanin-azarinejad-mohammadi-genetic-testing-personalised-treatment-GABA-receptors

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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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