title: A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
abstract: An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
authors.affiliation: Department of Pediatric Emergency, Izmir, Turkey. hur.apa@hotmail.com
authors.forename: Hursit
authors.initials: H
authors.lastname: Apa
authors.forename: Ertan
authors.initials: E
authors.lastname: Kayserili
authors.forename: Hasan
authors.initials: H
authors.lastname: Agin
authors.forename: Murat
authors.initials: M
authors.lastname: Hizarcioglu
authors.forename: Pamir
authors.initials: P
authors.lastname: Gulez
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli