A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Charles Marques LourençoJuliana Maria Ferraz SallumAlessandra Marques PereiraPaula Natale GirottoFernando KokDaniel Reda Fenga VilelaErika BarronAndre Luis Santos PessoaBibiana Mello de OliveiraPublished in: Arquivos de neuro-psiquiatria (2024)
The results suggest that these genetic panels can be very useful tools to confirm or exclude CLN2 diagnosis and, if confirmed, provide disease-specific treatment for the patients.