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pro vyhledávání: '"Kyle Emmitte"'
Autor:
Amy N Shore, Keyong Li, Mona Safari, Alshaima'a M Qunies, Brittany D Spitznagel, C David Weaver, Kyle Emmitte, Wayne Frankel, Matthew C Weston
Publikováno v:
eLife, Vol 13 (2024)
More than 20 recurrent missense gain-of-function (GOF) mutations have been identified in the sodium-activated potassium (KNa) channel gene KCNT1 in patients with severe developmental and epileptic encephalopathies (DEEs), most of which are resistant
Externí odkaz:
https://doaj.org/article/c400c6aeddf44a7fa69400b6b4b9e3a2
