Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures

• প্রধান লেখক: Raluca Ioana Teleanu (Author), Marlene Alexandra Sarman (Author), Diana Anamaria Epure (Author), Margarita Matei (Author), Ioana Roşca (Author), Eugenia Roza (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2023-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...