Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.

Rawan AlsafhAmal M Alhashem Aly ElsyedZafer YükselKalthoum Graiess-TliliKhalid HundallahFarah Thabet Brahim Tabarki

Published in: Neurology. Genetics (2024)

This study underscores the role of CLASP1 in brain development and suggests that the identified variant disrupts CLASP1 interaction with the microtubule cytoskeleton, contributing to lissencephaly pathogenesis.

Keyphrases

white matter
high throughput
genome wide
copy number
dna methylation
transcription factor
real time pcr
genome wide analysis