Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.

Foram Choksi Shantel WeinsheimerJeffrey NelsonLudmila PawlikowskaChristine K FoxAtif ZafarMarc C MabrayJoseph ZabramskiAmy AkersBlaine L HartLeslie MorrisonCharles E McCullochHelen Kim

Published in: Molecular genetics & genomic medicine (2021)

A common RASA1 variant may be associated with ICH and large lesion count in familial CCM. EPHB4 variants were not associated with any of the three CCM severity phenotypes.

Keyphrases

early onset
copy number
subarachnoid hemorrhage
gene expression
blood brain barrier