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Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy
BACKGROUND: Developmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE. This study aimed to examine the relationships between...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366601/ https://www.ncbi.nlm.nih.gov/pubmed/37497102 http://dx.doi.org/10.3389/fnmol.2023.1205265 |