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 Lourenço Juliana Maria Ferraz Sallum Alessandra Marques Pereira Paula Natale Girotto Fernando Kok Daniel Reda Fenga Vilela Erika Barron Andre Luis Santos Pessoa Bibiana Mello de Oliveira

Published 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.

Keyphrases

end stage renal disease
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
copy number
prognostic factors
dna methylation
patient reported
replacement therapy
bioinformatics analysis
smoking cessation