Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
|
| Materias: | |
| 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 |