Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"Developmental and Epileptic Encephalopathies"”.
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Investigating the Role of R-type Channel Mutations in Developmental and Epileptic Encephalopathies
Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders primarily affecting young children and are characterized by severe seizures. DEEs are challenging to manage and treat, with some patients experiencing severe side effects or not responding to frontline …
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Delineation of the genetic causes of complex epilepsies in South African pediatric patients
… is buried under the burden of infections and perinatal insults, in a setting of limited awareness and few options for testing. Children with developmental and epileptic encephalopathies (DEEs), are most severely affected by this diagnostic gap, as the rate of actionable findings is highest …
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A molecular approach to precision medicine in South African children with Epilepsy: towards a genetics-based diagnostic service for Epilepsy
… to the increased risk factors such as infectious and parasitic disease, and traumatic brain injury. A proportion of this burden is genetic, however, genetic testing for epilepsy in South Africa is limited, currently only accessible in the private healthcare sector via international referral. …