potassium channel subfamily T member 1 isoform 2 [Homo sapiens]

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Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties. [Epilepsia. 2023]
Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.
Hinckley CA, Zhu Z, Chu JH, Gubbels C, Danker T, Cherry JJ, Whelan CD, Engle SJ, Nguyen V. Epilepsia. 2023 Aug; 64(8):2126-2136. Epub 2023 Jun 9.
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity. [Int J Mol Sci. 2022]
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.
Rychkov GY, Shaukat Z, Lim CX, Hussain R, Roberts BJ, Bonardi CM, Rubboli G, Meaney BF, Whitney R, Møller RS, et al. Int J Mol Sci. 2022 Dec 1; 23(23). Epub 2022 Dec 1.
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy. [J Neurol. 2022]
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Cherian C, Appendino JP, Ashtiani S, Federico P, Molnar CP, Kerr M, Khan A, Au PYB, Klein KM. J Neurol. 2022 Apr; 269(4):2162-2171. Epub 2021 Sep 19.

RefSeq genomic sequence
See the genomic reference sequence for the KCNT1 gene (NG_033070.2).
RefSeq protein isoforms
See 20 reference sequence protein isoforms for the KCNT1 gene.

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NP_001258932 [Domain Mapping of Disease Mut...]
NP_001258932
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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