was only 20% compared to wild-type. No measurable current was recorded in CHO cells expressing Kv7.2(A294V) channel alone. Although the total Kv7.2(A294V) expression was rescued to wild-type levels in cells co-expressing the Kv7.3 subunit, .  et al. 0

the global current density was still reduced by 83% compared to wild-type heteromeric channel. In a configuration mimicking the patients' heterozygous genotype i.e.

resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

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the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment

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a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, .  et al. 0

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