publication . Article . Other literature type . 2018

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Karl P. Schlingmann; Sascha Bandulik; Cherry Mammen; Maja Tarailo-Graovac; Rikke Holm; Matthias Baumann; Jens König; Jessica J. Y. Lee; Britt I. Drögemöller; Katrin Imminger; ...
Open Access
  • Published: 01 Nov 2018 Journal: The American Journal of Human Genetics, volume 103, pages 808-816 (issn: 0002-9297, Copyright policy)
  • Publisher: Elsevier BV
  • Country: Netherlands
Abstract
Over the last decades, a growing spectrum of monogenic disorders of human magnesium homeostasis has been clinically characterized, and genetic studies in affected individuals have identified important molecular components of cellular and epithelial magnesium transport. Here, we describe three infants who are from non-consanguineous families and who presented with a disease phenotype consisting of generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persisted despite magnesium supplementation and were associated with significant intellectual disability. Whole-exome sequencing and conventional Sanger sequencing identified h...
Persistent Identifiers
Subjects
Fields of Science and Technology classification: 03 medical and health sciences0302 clinical medicine0301 basic medicine030217 neurology & neurosurgery030104 developmental biology
free text keywords: Genetics (clinical), Genetics, Report, Endocrinology, medicine.medical_specialty, medicine, Renal magnesium wasting, Cellular ion homeostasis, business.industry, business, Gene isoform, Hypomagnesemia, medicine.disease, Internal medicine, Homeostasis, Sanger sequencing, symbols.namesake, symbols, Germline, Na+/K+-ATPase
Funded by
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
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