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Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report

Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing rec...

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Detalles Bibliográficos
Autores principales: Rossi, Gian C., Patterson, Amy L., McGregor, Amy L., Wheless, James W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852356/
https://www.ncbi.nlm.nih.gov/pubmed/31763346
http://dx.doi.org/10.1177/2329048X19876199