Article
Solving the unsolved genetic epilepsies: Current and future perspectives.
Epilepsia - 1 Dec 2023
Johannesen Katrine M, Tümer Zeynep, Weckhuysen Sarah, Barakat Tahsin Stefan, Bayat Allan
Abstract excerpt
Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients with epilepsy: (1) the underlying cause is not genetic; (2) there is a complex polygenic explanation; (3) the illness is monogenic but the causative gene remains to be linked to...
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