ArticleChild neurology open2019
Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.
Article in Child neurology open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.Children (Basel, Switzerland) · 2023Article
- Autosomal dominant hypocalcemia with a novelThe Journal of international medical research · 2022Review
- Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.Journal of the Endocrine Society · 2022Article
- Recurrent hypocalcemic tetany presenting to the emergency room: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 receptor gene mutation. She is a 16-year-old female who began having staring events around 3 years of age. After her first generalized convulsion at age 5 years, investigations revealed hypocalcemia, hypercalciuria, and central nervous system calcifications. Her electroencephalogram demonstrated generalized epileptiform discharges, a hyperventilation-induced electroclinical seizure, and a photoconvulsive response. She has since been diagnosed with intellectual impairment, behavior disorder, and intractable childhood-onset seizures, the latter of which include eyelid myoclonia with absences. We conclude that calcium-sensing receptor gain-of-function mutations may precipitate an intractable generalized epilepsy syndrome with a comorbid endocrinopathy and that further investigations should be pursued in children with seizures presumed to be provoked by hypocalcemia.
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Registered trials
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