Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Ana Victoria Marco HernándezAlfonso Caro-LlopisPilar Rubio SánchezJuan Carlos Martínez MartínezMiguel Tomás VilaSandra MonfortFrancisco Martínez

Published in: Journal of child neurology (2022)

The exhaustive assessment of patients with pathogenic alterations detected in massive sequencing can help us to expand the phenotype, understand the etiopathogenesis associated with each genetic abnormality, and thus improve the prognosis and management of future patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
genome wide
chronic kidney disease
copy number
prognostic factors
single cell
gene expression
current status