ArticleEndocrinology, diabetes & metabolism case reports2020
A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.
Article in Endocrinology, diabetes & metabolism case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Familial Hypomagnesemia with Secondary Hypocalcemia Presenting As Infantile Cyanotic Spells.Indian journal of pediatrics · 2026Article
- The PACT Network: PRL, ARL, CNNM, and TRPM Proteins in Magnesium Transport and Disease.International journal of molecular sciences · 2025Review
- Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN case reports · 2023Review
- Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.CEN case reports · 2023Article
- Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.Frontiers in pediatrics · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
summaryFamilial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. LEARNING POINTS: Loss-of-function mutations of TRPM6 are associated with FHSH. FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM. Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium. Untreated, the disorder may be fatal or may result in irreversible neurological damage.
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