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
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Neuromuscular Diseases"
DOI: 10.3233/jnd-230020
Abstract: Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates.… read more here.
Keywords: cacna1s gene; cacna1s; periodic paralysis; myopathy ... See more keywords
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2024.1359479
Abstract: Introduction CACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic… read more here.
Keywords: cacna1s; congenital myopathy; novel phenotype; report ... See more keywords