References
Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41(2):385–402
Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nieslson S, Waldegger S, Seyberth HW, Konrad M (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 31(2):166–170
Milla PJ, Aggett PJ, Wolff OH, Harries JT (1979) Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium. Gut 20:1028–1033
Zhao Z, Pei Y, Huang X, Liu Y, Yang W, Sun J, Si N, Xing X, Li M, Wang O, Jiang Y, Zhang X, Xia W (2013) Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia. Am J Nephrol 37(6):541–548. https://doi.org/10.1159/000350886
Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG (2014) New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. Eur J Hum Genet 22(4):497–504. https://doi.org/10.1038/ejhg.2013.178
Shalev H, Phillip M, Galil A, Carmi R, Landau D (1998) Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 78(2):127–130
Habeb AM, Al-Harbi H, Schlingmann KP (2012) Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation. Saudi J Kidney Dis Transpl 23(5):1038–1042. https://doi.org/10.4103/1319-2442.100945
Astor MC, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, Husebye ES (2015) Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6. Endocr Connect 4(4):215–222. https://doi.org/10.1530/EC-15-0066
Shimizu M, Niida Y, Koizumi S, Yachie A (2014) An infant with recurrent convulsive seizures of 3 weeks’ duration: answers. Pediatr Nephrol 29:1953. https://doi.org/10.1007/s00467-013-2628-z
Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C (2010) Gitelman syndrome: pathophysiological and clinical aspects. QJM 103(10):741–748. https://doi.org/10.1093/qjmed/hcq123
Altıncık A, Schlingmann KP, Tosun MS (2016) A novel homozygous mutation in the transient receptor potential melastatin 6 gene: a case report. J Clin Res Pediatr Endocrinol 8(1):101–104. https://doi.org/10.4274/jcrpe.2254
Guran T, Akcay T, Bereket A, Atay Z, Turan S, Haisch L, Konrad M, Schlingmann KP (2012) Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes. Nephrol Dial Transplant 27(2):667–673. https://doi.org/10.1093/ndt/gfr300
Nesibe A, Sinasi O (2012) Primary familial hypomagnesemia syndrome: a new approach in treatment. J Pediatr Endocrinol Metab 25(5–6):599–602
Apa H, Kayserili E, Agin H, Hizarcioglu M, Gulez P, Berdeli A (2008) A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation. Indian J Pediatr 75(6):632–634. https://doi.org/10.1007/s12098-008-0121-7
Author information
Authors and Affiliations
Corresponding author
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This refers to the article that can be found at https://doi.org/10.1007/s00467-019-04231-9.
Rights and permissions
About this article
Cite this article
Özlü, S.G., Kasapkara, C.S., Ceylaner, S. et al. Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers. Pediatr Nephrol 34, 1729–1731 (2019). https://doi.org/10.1007/s00467-019-04236-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-019-04236-4