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

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...

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Hlavní autoři: Chandreyee Bhattacharya, Rajiv Sinha, Subrata Dey, Kaushik Maulik
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Medknow Publications 2024-08-01
Edice:Indian Pediatrics Case Reports
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On-line přístup:https://journals.lww.com/10.4103/ipcares.ipcares_265_23
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