Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Feb 2024

Dokurel Çetin İpek, Betül Gerik-Çelebi Hamide, Demiral Meliha, Çetin Orkun

Abstract excerpt

OBJECTIVES: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (TRPM6) genes, is a rare hereditary cause of extremely low serum magnesium levels. We describe an infant with triggered seizures due to hypomagnesemia and a novel mutation in TRPM6 gene was identified. CASE PRESENTATION: A 10-month-old boy presented with multidrug...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hypocalcemia
Share to Infant
Share to Magnesium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Seizures

Share to TRPM Cation Channels

Source

Identifiers

PMID: 38084506
DOI: 10.1515/jpem-2023-0378

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene.PMID 38084506Read ↗

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.Semantic proximity Read ↗

Familial hypomagnesaemia with secondary hypocalcaemia.Semantic proximity Read ↗

Adult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report.Semantic proximity Read ↗

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary HypocalcemiaSemantic proximity Read ↗

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.Semantic proximity Read ↗

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemiaSemantic proximity Read ↗

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.Semantic proximity Read ↗

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation.Semantic proximity Read ↗

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.Semantic proximity Read ↗

Hypomagnesemia due to two novel TRPM6 mutations.Semantic proximity Read ↗

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature ReviewSemantic proximity Read ↗

Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.