neonatal period electroclinical syndrome

Literature (11)

Literature for DOID 0050702: neonatal period electroclinical syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy., Hunter J,Maljevic S,Shankar A,Siegel A,Weissman B,Holt P,Olson L,Lerche H,Escayg A, Neurobiol Dis. October 1, 2006; 24(1):1095-953X.
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.
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.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.
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.
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.
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.

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy., Hunter J,Maljevic S,Shankar A,Siegel A,Weissman B,Holt P,Olson L,Lerche H,Escayg A, Neurobiol Dis. October 1, 2006; 24(1):1095-953X.

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.

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.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.

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.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.

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.