An E280K Missense Variant in <i>KCND3</i>/Kv4.3—Case Report and Functional Characterization
A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing covering 357 genes associated with movement disorders. Sequencing...
Main Authors: | Richard Ågren, Niels Geerdink, Han G. Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-06-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/13/10924 |
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