Application and evaluation of a clinical protocol for epilepsies without etiological diagnosis: case series
Year: 2025
Type: article
Study design: Case Report
Abstract: OBJECTIVE: To establish the genetic etiology as the cause of epilepsy that is refractory to treatment and associated with delayed neuropsychomotor development. METHODS: Retrospective case series study, with data collection through review of medical records, including children aged 0 to 10 years who were hospitalized in pediatric units or followed on an outpatient basis and who, obligatorily, underwent genetic evaluation due to seizures. RESULTS: Nine patients in whom the protocol was applied were selected, one pathogenic and two probable pathogenic genetic variants were found. CONCLUSION: It was possible to further investigate cases of epilepsy without a defined etiology and establish appropriate treatment and genetic counseling.
Source: Residência Pediátrica
Authors: Marlon Maders, Simone Karam, Diuliana Soares, Kauany Triques, Milene Costa, João Santos
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4410950318