Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (4)
Literature for DOID 0050709: early infantile epileptic encephalopathy

Xenbase Articles :
( Denotes literature images)
Human slack potassium channel mutations increase positive cooperativity between individual channels., Kim GE,Kronengold J,Barcia G,Quraishi IH,Martin HC,Blair E,Taylor JC,Dulac O,Colleaux L,Nabbout R,Kaczmarek LK, Cell Rep. December 11, 2014; 9(5):2211-1247.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy., McTague A,Nair U,Malhotra S,Meyer E,Trump N,Gazina EV,Papandreou A,Ngoh A,Ackermann S,Ambegaonkar G,Appleton R,Desurkar A,Eltze C,Kneen R,Kumar AV,Lascelles K,Montgomery T,Ramesh V,Samanta R,Scott RH,Tan J,Whitehouse W,Poduri A,Scheffer IE,Chong WKK,Cross JH,Topf M,Petrou S,Kurian MA, Neurology. January 1, 2018; 90(1):1526-632X.
Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy., Xu Y,Xu Y,Song R,Chen W,Strong K,Shrey D,Gedela S,Traynelis SF,Zhang G,Yuan H, Ann Clin Transl Neurol. January 1, 2021; 8(7):2328-9503.
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity., Lazarov E,Hillebrand M,Schröder S,Ternka K,Hofhuis J,Ohlenbusch A,Barrantes-Freer A,Pardo LA,Fruergaard MU,Nissen P,Brockmann K,Gärtner J,Rosewich H, Neurobiol Dis. January 1, 2020; 143:1095-953X.