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

İpek Dokurel ÇetinHamide Betül Gerik-ÇelebiMeliha DemiralOrkun Çetin
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2023)
HSH often presents with developmental issues, treatment-resistant seizures, and increased neuromuscular excitability. Untreated hypomagnesemia can potentially be fatal and severely impair cognitive function. Clinical suspicion is essential for early diagnosis and treatment.
Keyphrases
  • copy number
  • genome wide
  • transcranial direct current stimulation
  • dna methylation
  • transcription factor
  • working memory