Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.
Jasmine MagheraJingru LiShawn M LamotheMarvin BraunJuan Pablo AppendinoP Y Billie AuHarley T KurataPublished in: Epilepsia open (2020)
Biophysical and clinical effects of the T313I mutation are consistent with Kv7.3 mutations previously identified in cases of pharmacoresponsive self-limiting neonatal epilepsy. These findings expand our description of functionally characterized Kv7 channel variants and report new methods to distinguish molecular mechanisms of channel mutations.