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Novel mutations in SLC6A5 with benign course in hyperekplexia

Hormos Salimi Dafsari1,2, Amit Kawalia3, Rosanne Sprute1,2

  • 1Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.

Cold Spring Harbor Molecular Case Studies
|October 13, 2019
PubMed
Summary

Genetic diagnosis of rare infant disorders is crucial. Novel variants in the SLC6A5 gene were identified in an infant with hyperekplexia, preventing misdiagnosis and unnecessary treatment.

Keywords:
apneic episodes in infancyequinovarus deformityexaggerated startle response

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