PhenomeGene — Human Disease Gene Website SeriesKCNMA1

Publications

Bailey C et al. SKCNMA1-linked channelopathy. J Gen Physiol. 2019;151(10):1173–1189. https://doi.org/10.1085/jgp.201912457 PMID: 31427379.

Du W et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet. 2005;37(7):733–738. https://doi.org/10.1038/ng1585 PMID: 15937479.

Keros S et al. Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant. Mov Disord Clin Pract. 2021;9(2):229–235. https://doi.org/10.1002/mdc3.13394 PMID: 35141357.

Liang L et al. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Hum Mol Genet. 2019;28(17):2937-2951.  DOI: 10.1093/hmg/ddz117 PMID: 31152168.

Miller JP et al. An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy. Channels (Austin). 2021;15(1):447–464. https://doi.org/10.1080/19336950.2021.1938852 PMID: 34224328.

Moldenhauer HJ et al. Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties. J Neurophysiol. 2020;123(2):560–570. https://doi.org/10.1152/jn.00626.2019 PMID: 31851553.

Park SM et al. BK channel properties correlate with neurobehavioral severity in three KCNMA1 -linked channelopathy mouse models.  eLife. 2022;11:e77953. https://doi.org/10.7554/eLife.77953 PMID: 35819138.