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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
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PubMed
subject areas
Adolescent
Adult
Cerebellar Ataxia
Child
Child, Preschool
Electrophysiological Phenomena
Exome
Frameshift Mutation
Genetic Variation
Haploinsufficiency
Humans
Intellectual Disability
Magnetic Resonance Imaging
Male
Middle Aged
Movement Disorders
Mutation, Missense
Neurodevelopmental Disorders
Patch-Clamp Techniques
Small-Conductance Calcium-Activated Potassium Channels
White Matter
Young Adult
authors with profiles
Daniela Del Gaudio