Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures

• Hoofdauteurs: Raluca Ioana Teleanu (Auteur), Marlene Alexandra Sarman (Auteur), Diana Anamaria Epure (Auteur), Margarita Matei (Auteur), Ioana Roşca (Auteur), Eugenia Roza (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2023-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the <i>CASR</i> gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal perio...