Key result
A rare c.1720C>T (p.P574S) variant in the KCNQ3 gene was identified in patients with autism spectrum disorders and was shown to significantly reduce potassium current amplitude when co-expressed with KV7.5.
Dysfunction of the heteromeric KV7.3/KV7.5 channel may be implicated in the pathogenesis of some forms of autism spectrum disorders.
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Rare KCNQ3 variant may implicate KV7.3/KV7.5 dysfunction in select ASD cases; hypothesis-generating and requires validation before any clinical application.
Gilling et al. (2013) studied Autism spectrum disorders (n=615). KCNQ3 gene variations (c.1720C>T [p.P574S] and translocations) vs. Wild-type KCNQ3 / healthy controls was evaluated on Identification of KCNQ3 mutations and their functional impact on potassium currents. A rare c.1720C>T (p.P574S) variant in the KCNQ3 gene was identified in patients with autism spectrum disorders and was shown to significantly reduce potassium current amplitude when co-expressed with KV7.5.
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