Genetic diagnosis of basal ganglia disease in childhood.

Heidy Baide-MairenaLaura Marti-SánchezAnna Marcé-GrauAna Cazurro-GutiérrezAngel Sanchez-MontanezIgnacio DelgadoAntonio Moreno-GaldóAlfons Macaya-RuizElena García-ArumíBelen Perez-Duenasnull null

Published in: Developmental medicine and child neurology (2022)

Combined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. We propose a diagnostic algorithm which prioritizes early use of next-generation sequencing on the basis of three clusters of basal ganglia lesions.

Keyphrases

copy number
mitochondrial dna
genome wide
machine learning
single cell
deep learning
gene expression
circulating tumor
neural network