Key result
Quinidine add-on therapy markedly improves epileptic encephalopathy in one patient with a KCNT2 gain-of-function variant.
Why the study?
Variants in potassium channel genes have been implicated in developmental and epileptic encephalopathies, but the role of KCNT2 variants was not established.
Does quinidine add-on therapy improve clinical outcomes in patients with KCNT2-related developmental and epileptic encephalopathy?
Case Report (n=2)
Does quinidine add-on therapy improve clinical outcomes in patients with KCNT2-related developmental and epileptic encephalopathy?
De novo gain-of-function variants in KCNT2 cause developmental and epileptic encephalopathy, which may be responsive to precision treatment with quinidine.
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Quinidine may benefit select KCNT2-DEE patients; leaves open efficacy and safety confirmation in prospective trials.
Ambrosino et al. (2018) conducted a case report in Developmental and epileptic encephalopathy (n=2). Quinidine add-on therapy was evaluated on Clinical improvements. Quinidine add-on therapy achieved marked clinical improvements in a patient with a de novo gain-of-function variant in KCNT2 causing developmental and epileptic encephalopathy.
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