Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

doi:10.1002/mdc3.13024

. 2020 Aug 21;7(7):861-862.

doi: 10.1002/mdc3.13024. eCollection 2020 Oct.

Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

Jennifer Heim¹, Anusha Vemuri², Sara Lewis^{1

3}, Brandon Guida^{1

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

3}

Affiliations

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.

PMID: 33043086
PMCID: PMC7533972
DOI: 10.1002/mdc3.13024

Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

Jennifer Heim et al. Mov Disord Clin Pract. 2020.

. 2020 Aug 21;7(7):861-862.

doi: 10.1002/mdc3.13024. eCollection 2020 Oct.

Authors

Jennifer Heim¹, Anusha Vemuri², Sara Lewis^{1

3}, Brandon Guida^{1

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

3}

Affiliations

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.

PMID: 33043086
PMCID: PMC7533972
DOI: 10.1002/mdc3.13024

No abstract available

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

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Figures

**FIG 1**
(A) number of episodes recorded manually daily by caregivers of patient 1 during acetazolamide dosage increases (+), decreases (−), and washout (Ø). (B) Decreased number of episodes with acetazolamide treatment. Number of days indicated/dosage. *P < 0.05 Mann–Whitney test.

See this image and copyright information in PMC

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References

1. Du W, Bautista JF, Yang H, et al. Calcium‐sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733–738. - PubMed
1. Zhang ZB, Tian MQ, Gao K, Jiang YW, Wu Y. De novo KCNMA1 mutations in children with early‐onset paroxysmal dyskinesia and developmental delay. Mov Disord 2015;30(9):1290–1292. - PubMed
1. Li X, Poschmann S, Chen Q, et al. De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. Eur J Hum Genet 2018;26(2):220–229. - PMC - PubMed
1. Moldenhauer HJ, Matychak KK, Meredith AL. Comparative gain‐of‐function effects of the KCNMA1‐N999S mutation on human BK channel properties. J Neurophysiol 2020;123(2):560–570. - PMC - PubMed
1. Tricarico D, Barbieri M, Mele A, Carbonara G, Camerino DC. Carbonic anhydrase inhibitors are specific openers of skeletal muscle BK channel of K+‐deficient rats. FASEB J 2004;18(6):760–761. - PubMed

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[1] Du W, Bautista JF, Yang H, et al. Calcium‐sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733–738. - PubMed

[2] Du W, Bautista JF, Yang H, et al. Calcium‐sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733–738. - PubMed

[3] Zhang ZB, Tian MQ, Gao K, Jiang YW, Wu Y. De novo KCNMA1 mutations in children with early‐onset paroxysmal dyskinesia and developmental delay. Mov Disord 2015;30(9):1290–1292. - PubMed

[4] Zhang ZB, Tian MQ, Gao K, Jiang YW, Wu Y. De novo KCNMA1 mutations in children with early‐onset paroxysmal dyskinesia and developmental delay. Mov Disord 2015;30(9):1290–1292. - PubMed

[5] Li X, Poschmann S, Chen Q, et al. De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. Eur J Hum Genet 2018;26(2):220–229. - PMC - PubMed

[6] Li X, Poschmann S, Chen Q, et al. De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. Eur J Hum Genet 2018;26(2):220–229. - PMC - PubMed

[7] Moldenhauer HJ, Matychak KK, Meredith AL. Comparative gain‐of‐function effects of the KCNMA1‐N999S mutation on human BK channel properties. J Neurophysiol 2020;123(2):560–570. - PMC - PubMed

[8] Moldenhauer HJ, Matychak KK, Meredith AL. Comparative gain‐of‐function effects of the KCNMA1‐N999S mutation on human BK channel properties. J Neurophysiol 2020;123(2):560–570. - PMC - PubMed

[9] Tricarico D, Barbieri M, Mele A, Carbonara G, Camerino DC. Carbonic anhydrase inhibitors are specific openers of skeletal muscle BK channel of K+‐deficient rats. FASEB J 2004;18(6):760–761. - PubMed

[10] Tricarico D, Barbieri M, Mele A, Carbonara G, Camerino DC. Carbonic anhydrase inhibitors are specific openers of skeletal muscle BK channel of K+‐deficient rats. FASEB J 2004;18(6):760–761. - PubMed

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Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

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Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation

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