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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...
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade my...
Gilling, M; Lauritsen, MB; Møller, M; Henriksen, KF; Vicente, A; Oliveira, G; Cintin, C; Eiberg, H; Andersen, PS; Mors, O; Rosenberg, TAutism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and hi...
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade my...
Gilling, M.; Lauritsen, M.B.; Møller, M.; Henriksen, K.F.; Vicente, A.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P.S.; Mors, O.; Rosenberg, T.Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and hi...
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