Associated Papers
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Zima L et al.
Annals of Clinical and Translational Neurology, 2018
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Glaudemans B et al.
The Journal of Clinical Investigation, 2009
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