[AP4-assocated hereditary spastic paraplegias].

G E Rudenskaya Daria Guseva Olga Mironovich V A Kadnikova E L Dadali I F Komar'kov Olga G Novoselova Oxana P Ryzhkova

Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2021)

AP4-associated SPG should be taken into consideration in patients with early-onset severe nervous diseases mimicking non-genetic organic CNS disorders and massive exome sequencing (WES or other variants) should be performed.

Keyphrases

early onset
copy number
transcription factor
late onset
genome wide
cerebral palsy
single cell
blood brain barrier
dna methylation
gene expression