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A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism

BACKGROUND: Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders. Often, it is difficult to identify the physiologi...

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Detalles Bibliográficos
Autores principales:	Galán-Vidal, Jesús, Socuéllamos, Paula G., Baena-Nuevo, María, Contreras, Lizbeth, González, Teresa, Pérez-Poyato, María S., Valenzuela, Carmen, González-Lamuño, Domingo, Gandarillas, Alberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446776/ https://www.ncbi.nlm.nih.gov/pubmed/36068614 http://dx.doi.org/10.1186/s13023-022-02499-z

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