Summary Literature (25)

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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.

A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA,Claes LR,Lopez-Santiago LF,Slat EA,Dondeti RS,Chen C,O'Malley HA,Gray CB,Miyazaki H,Nukina N,Oyama F,De Jonghe P,Isom LL, J Neurosci. August 26, 2009; 29(34):1529-2401.

Moving gating charges through the gating pore in a Kv channel voltage sensor., Lacroix JJ,Hyde HC,Campos FV,Bezanilla F, Proc Natl Acad Sci U S A. May 13, 2014; 111(19):1091-6490.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy., Muona M,Berkovic SF,Dibbens LM,Oliver KL,Maljevic S,Bayly MA,Joensuu T,Canafoglia L,Franceschetti S,Michelucci R,Markkinen S,Heron SE,Hildebrand MS,Andermann E,Andermann F,Gambardella A,Tinuper P,Licchetta L,Scheffer IE,Criscuolo C,Filla A,Ferlazzo E,Ahmad J,Ahmad A,Baykan B,Said E,Topcu M,Riguzzi P,King MD,Ozkara C,Andrade DM,Engelsen BA,Crespel A,Lindenau M,Lohmann E,Saletti V,Massano J,Privitera M,Espay AJ,Kauffmann B,Duchowny M,Møller RS,Straussberg R,Afawi Z,Ben-Zeev B,Samocha KE,Daly MJ,Petrou S,Lerche H,Palotie A,Lehesjoki AE, Nat Genet. January 1, 2015; 47(1):1546-1718.

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.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes., Lemke JR,Lal D,Reinthaler EM,Steiner I,Nothnagel M,Alber M,Geider K,Laube B,Schwake M,Finsterwalder K,Franke A,Schilhabel M,Jähn JA,Muhle H,Boor R,Van Paesschen W,Caraballo R,Fejerman N,Weckhuysen S,De Jonghe P,Larsen J,Møller RS,Hjalgrim H,Addis L,Tang S,Hughes E,Pal DK,Veri K,Vaher U,Talvik T,Dimova P,Guerrero López R,Serratosa JM,Linnankivi T,Lehesjoki AE,Ruf S,Wolff M,Buerki S,Wohlrab G,Kroell J,Datta AN,Fiedler B,Kurlemann G,Kluger G,Hahn A,Haberlandt DE,Kutzer C,Sperner J,Becker F,Weber YG,Feucht M,Steinböck H,Neophythou B,Ronen GM,Gruber-Sedlmayr U,Geldner J,Harvey RJ,Hoffmann P,Herms S,Altmüller J,Toliat MR,Thiele H,Nürnberg P,Wilhelm C,Stephani U,Helbig I,Lerche H,Zimprich F,Neubauer BA,Biskup S,von Spiczak S, Nat Genet. September 1, 2013; 45(9):1546-1718.

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.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

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.

A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.

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.

Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions., Anderson LL,Absalom NL,Abelev SV,Low IK,Doohan PT,Martin LJ,Chebib M,McGregor IS,Arnold JC, Epilepsia. November 1, 2019; 60(11):1528-1167.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia., Stendel C,D'Adamo MC,Wiessner M,Dusl M,Cenciarini M,Belia S,Nematian-Ardestani E,Bauer P,Senderek J,Klopstock T,Pessia M, Int J Mol Sci. May 27, 2020; 21(11):1422-0067.

Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.

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.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.

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.