Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

Mov Disord Clin Pract. 2020 Aug 21;7(7):861-862. doi: 10.1002/mdc3.13024. eCollection 2020 Oct.

Jennifer Heim¹, Anusha Vemuri², Sara Lewis^{1

3}, Brandon Guida^{1

3}, Matthew Troester⁴, Sotirios Keros⁵, Andrea Meredith⁶, Michael C Kruer^{1

3}

¹ Pediatric Movement Disorders Program, Barrow Neurological Institute Phoenix Children's Hospital Phoenix Arizona USA.
² Pathology Department University of Chicago Medical Center Chicago Illinois USA.
³ Departments of Child Health, Neurology, Genetics, Cellular & Molecular Medicine University of Arizona College of Medicine Phoenix Phoenix Arizona USA.
⁴ Pediatric Epilepsy & Sleep Medicine Program, Barrow Neurological Institute Phoenix Children's Hospital Phoenix Arizona USA.
⁵ New York Presbyterian Hospital Weill Cornell Medical Center New York New York City USA.
⁶ University of Maryland School of Medicine Baltimore Maryland USA.

No abstract available

Keywords: KCNMA1; PNKD3; acetazolamide; cataplexy; pediatric movement disorder.

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