Publications by authors named "Afroditi Kampouraki"
Article Synopsis
- * A study conducted between 2018 and now involved Whole Exome Sequencing of 19 patients, mainly children, leading to genetic diagnoses of AS types including X-linked and autosomal forms.
- * Early genetic diagnosis allows for prompt treatment and monitoring, especially crucial for children, helping to prevent progression to chronic kidney disease.
, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing various types of epilepsy. Dravet syndrome (DS), the first described clinical presentation of SCN1A channelopathy, is characterized by severe myoclonic epilepsy in infancy (SMEI).
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