Does dominant-negative mutation p.Arg324Thr in KCNA1 impair Kv1.1 channel function in episodic ataxia?
Taken together, we provide genetic and functional evidence that mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect. © 2016 International Parkinson and Movement Disorder Society.
The recent temperature fluctuations in Japan seem to be linked to a lower male:female sex ratio of newborn infants, partly via increased male fetal deaths. Male concepti seem to be especially vulnerable to external stress factors, including climate changes.