early infantile epileptic encephalopathy

Literature (6)

Literature for DOID 0050709: early infantile epileptic encephalopathy

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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 2, 2018; 90(1):1526-632X.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG,Mis EK,Lindstrom K,Mercimek-Andrews S,Ji W,Cho MT,Juusola J,Konstantino M,Jeffries L,Khokha MK,Lakhani SA, J Med Genet. February 1, 2019; 56(2):1468-6244.
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. July 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. September 1, 2020; 143:1095-953X.
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine., Pierson TM,Yuan H,Marsh ED,Fuentes-Fajardo K,Adams DR,Markello T,Golas G,Simeonov DR,Holloman C,Tankovic A,Karamchandani MM,Schreiber JM,Mullikin JC,Tifft CJ,Toro C,Boerkoel CF,Traynelis SF,Gahl WA, Ann Clin Transl Neurol. March 1, 2014; 1(3):2328-9503.

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 2, 2018; 90(1):1526-632X.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG,Mis EK,Lindstrom K,Mercimek-Andrews S,Ji W,Cho MT,Juusola J,Konstantino M,Jeffries L,Khokha MK,Lakhani SA, J Med Genet. February 1, 2019; 56(2):1468-6244.

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. July 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. September 1, 2020; 143:1095-953X.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine., Pierson TM,Yuan H,Marsh ED,Fuentes-Fajardo K,Adams DR,Markello T,Golas G,Simeonov DR,Holloman C,Tankovic A,Karamchandani MM,Schreiber JM,Mullikin JC,Tifft CJ,Toro C,Boerkoel CF,Traynelis SF,Gahl WA, Ann Clin Transl Neurol. March 1, 2014; 1(3):2328-9503.