Article
A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.
Orphanet journal of rare diseases - 6 Sept 2022
Galán-Vidal Jesús, Socuéllamos Paula G, Baena-Nuevo María, Contreras Lizbeth, González Teresa, Pérez-Poyato María S, Valenzuela Carmen, González-Lamuño Domingo, Gandarillas Alberto
Abstract excerpt
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 physiological defects and the appropriate treatments. RESULTS: We have isolated and cultured primary cells from the skin of a...
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