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Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with...
Gilling, M.; Rasmussen, H.B.; Calloe, K.; Sequeira, A.F.; Barreto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M.B.; Ullmann, R.; Boonen, S.E.Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsions. We identified a de novo t(3;8) (q21;q24) translocation truncating KCNQ3 in a boy with childhood autism. In addition, we identified a c.1720C > T [p.P574S] nucl...
Data: 2013
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Origem: Repositório Científico do Instituto Nacional de Saúde
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