A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.

Abolfazl YariReza Molla Ali-NejadNasrollah Saleh-Gohari

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

This is the first report that demonstrates c.423+1 G>A variant in the SCARB2 gene segregating with the phenotype of EPM4 in a consanguineous Iranian family.

Keyphrases

multiple sclerosis
copy number
genome wide
genome wide identification
gene expression
dna methylation
transcription factor