Natural history of rare diseases using Natural Language Processing of narrative unstructured electronic health records: the example of Dravet syndrome.
Tommaso Lo BarcoNicolas GarcelonAntoine NeurazRima NabboutPublished in: Epilepsia (2023)
The extraction of clinical terms by narrative reports of children with DS, allows to outline the known natural history of this rare disease in early childhood. This original model of "longitudinal phenotyping" could be applied for other rare and very rare conditions with poor natural history description.