A Rare Compound Heterozygous Mutation of TRPM6 Gene in Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Cause of Refractory Seizures in an Infant

• Những tác giả chính: Chandreyee Bhattacharya (Tác giả), Rajiv Sinha (Tác giả), Subrata Dey (Tác giả), Kaushik Maulik (Tác giả)
• Định dạng: Sách
• Được phát hành: Wolters Kluwer Medknow Publications, 2024-08-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Background: Hypomagnesemia is an important cause of refractory hypocalcemic seizures. Among the causes of hypomagnesemia, genetic defects are rare. Clinical Description: A 20-month-old boy presented with a history of repeated hypocalcemic convulsions since 1 month of age. Besides seizures, the infan...