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Case Reports
. 2021 Dec 21;9(2):229-235.
doi: 10.1002/mdc3.13394. eCollection 2022 Feb.

Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant

Sotirios Keros  1   2 , Jennifer Heim  3 , Wejdan Hakami  3 , Efrat Zohar-Dayan  4 , Bruria Ben-Zeev  4   5 , Zach Grinspan  1 , Michael C Kruer  2   3   6 , Andrea L Meredith  2   7
Affiliations
Case Reports

Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant

Sotirios Keros et al. Mov Disord Clin Pract. .

Abstract

Background: KCNMA1-linked channelopathy is a rare movement disorder first reported in 2005. Paroxysmal non-kinesigenic dyskinesia (PNKD) in KCNMA1-linked channelopathy is the most common symptom in patients harboring the KCNMA1-N999S mutation. PNKD episodes occur up to hundreds of times daily with significant morbidity and limited treatment options, often in the context of epilepsy.

Cases: We report 6 cases with the KCNMA1-N999S variant treated with lisdexamfetamine (0.7-1.25 mg/kg/day), a pro-drug of dextroamphetamine. Data were collected retrospectively from interviews and chart review. Parent-reported daily PNKD episode counts were reduced under treatment, ranging from a 10-fold decrease to complete resolution.

Conclusion: Our findings suggest that lisdexamfetamine is an effective therapy for PNKD3 (KCNMA1-associated PNKD). Treatment produced dramatic reductions in debilitating dyskinesia episodes, without provocation or exacerbation of other KCNMA1-associated symptoms such as seizures.

Keywords: BK channel; KCa1.1; PNKD type 3; movement disorder; stimulants.

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References

    1. Bailey CS, Moldenhauer HJ, Park SM, Keros S, Meredith AL. KCNMA1‐linked channelopathy. J Gen Physiol 2019;151(10):1173–1189. - PMC - PubMed
    1. Miller J, Moldenhauer HJ, Keros S, Meredith AL. An emerging spectrum of variants and clinical features in KCNMA1‐linked channelopathy. Channels (Austin) 2021;15(1):447–464. - 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. Harvey S, King MD, Gorman KM. Paroxysmal movement disorders. Front Neurol 2021;11(12):659064. - PMC - PubMed
    1. Heim J, Vemuri A, Lewis S, et al. Cataplexy in patients harboring the KCNMA1 p.N999S mutation. Mov Disord Clin Pract 2020;7(7):861–862. - PMC - PubMed

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