X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.02.008
Abstract: BACKGROUND The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported. METHODS We reviewed… read more here.
Keywords: epilepsy; linked familial; familial focal; focal epilepsy ... See more keywords
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108862
Abstract: Background Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure,… read more here.
Keywords: deletion; xp22 deletion; associated xp22; risk ... See more keywords