Searchable abstracts of presentations at key conferences in endocrinology

ea0035n6 | (1) | ECE2014

Effects of PRKAR1A mutations in behavior and brain function

Keil Margaret , Lyssikatos Charalampos , Shaikh Moomal , Belyavskaya Elena , Elliott Brenda , Batista Dalia , Stratakis Constantine

Background: Various genetic syndromes have identified distinct and consistent behavior patterns. Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome first described by Dr Carney in 1985 as a complex of myxomas (cardiac, skin), spotty skin pigmentation, and endocrine over activity. CNC is caused by mutations of the PRKARIA gene that encodes the RI╬▒ regulatory subunit of Protein kinase A (PKA). We recently reported that a Prkar1a heterozyg...