CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Sign Up to like & getrecommendations! Published in 2023 at "Oral diseases"
DOI: 10.1111/odi.14551
Abstract: OBJECTIVES To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions. MATERIAL AND METHODS Clinical and radiographic examinations were performed on eight patients.… read more here.
Keywords: cacna1s; cacna1s mutation; mutation associated; dental anomalies ... See more keywords
Novel CACNA1S mutation in hypokalaemic periodic paralysis
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245952
Abstract: A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory… read more here.
Keywords: novel cacna1s; cacna1s mutation; hypokalaemic periodic; paralysis ... See more keywords