An E280K Missense Variant in KCND3/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...

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Detalles Bibliográficos
Autores principales: Ågren, Richard, Geerdink, Niels, Brunner, Han G., Paucar, Martin, Kamsteeg, Erik-Jan, Sahlholm, Kristoffer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341420/
https://www.ncbi.nlm.nih.gov/pubmed/37446101
http://dx.doi.org/10.3390/ijms241310924

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341420/
https://www.ncbi.nlm.nih.gov/pubmed/37446101
http://dx.doi.org/10.3390/ijms241310924

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