4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
Sign Up to like & getrecommendations! Published in 2021 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aaz4957
Abstract: Description 4-Aminopyridine is a potential therapeutic option for a subgroup of patients with KCNA2-encephalopathy and gain-of-function variants. Targeting the K+ey current Gain-of-function (GOF) mutations in the potassium channel Kv1.2 cause a subtype of developmental KCNA2-encephalopathy,… read more here.
Keywords: medicine; treatment; kcna2 encephalopathy; aminopyridine ... See more keywords