Summary Literature (136)

Xenbase Articles :
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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.

A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction., Persson AS,Klement G,Almgren M,Sahlholm K,Nilsson J,Petersson S,Arhem P,Schalling M,Lavebratt C, BMC Neurosci. November 23, 2005; 6:1471-2202.

Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors., Liang Y,Salas R,Marubio L,Bercovich D,De Biasi M,Beaudet AL,Dani JA, Neurogenetics. February 1, 2005; 6(1):1364-6745.

Transgenic animal models of tauopathies., Lee VM,Kenyon TK,Trojanowski JQ, Biochim Biophys Acta. January 3, 2005; 1739(2-3):0006-3002.

Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects., Müllner C,Broos LA,van den Maagdenberg AM,Striessnig J, J Biol Chem. December 10, 2004; 279(50):1083-351X.

Modification of Kv2.1 K+ currents by the silent Kv10 subunits., Vega-Saenz de Miera EC, Brain Res Mol Brain Res. April 7, 2004; 123(1-2):0169-328X.

Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL,Bianchi MT,Bianch MT,Feng H, Exp Neurol. November 1, 2003; 184 Suppl 1:0014-4886.

Molecular motions of the outer ring of charge of the sodium channel: do they couple to slow inactivation?, Xiong W,Li RA,Tian Y,Tomaselli GF, J Gen Physiol. September 1, 2003; 122(3):1540-7748.

Down-regulation of GABA-transporter function by hippocampal translation products: its possible role in epilepsy., Fueta Y,Vasilets LA,Takeda K,Kawamura M,Schwarz W, Neuroscience. January 1, 2003; 118(2):1873-7544.

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS,Malhotra J,Loukas A,Thyagarajan V,Kazen-Gillespie KA,Koopman MC,Kriegler S,Isom LL,Ragsdale DS, J Neurosci. December 15, 2002; 22(24):1529-2401.

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans., Bianchi MT,Song L,Zhang H,Macdonald RL, J Neurosci. July 1, 2002; 22(13):1529-2401.

Modelling Alzheimer-specific abnormal Tau phosphorylation independently of GSK3beta and PKA kinase activities., Delobel P,Flament S,Hamdane M,Delacourte A,Vilain JP,Buée L, FEBS Lett. April 10, 2002; 516(1-3):1873-3468.

Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.

[Cellular mechanism of seizure discharge and its normalization by a herbal mixture prescription "saikokeishito-ka-shakuyaku" (SK)]., Sugaya A, Yakugaku Zasshi. May 1, 2001; 121(5):1347-5231.

Notch in vertebrates., Robey E, Curr Opin Genet Dev. August 1, 1997; 7(4):0959-437X.

Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor., Karp SJ,Masu M,Eki T,Ozawa K,Nakanishi S, J Biol Chem. February 15, 1993; 268(5):1083-351X.

Infection of a poikilothermic cell line (XL-2) with eastern equine encephalitis and western equine encephalitis viruses., Morier L,Cantelar N,Soler M, J Med Virol. March 1, 1987; 21(3):0146-6615.

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB,Zifarelli G,Qiu LY,Schwarz W,De Pont JJ,Bamberg E,Friedrich T, Biochim Biophys Acta. May 15, 2005; 1669(1):0006-3002.

Paracrine and autocrine mechanisms of apelin signaling govern embryonic and tumor angiogenesis., Kälin RE,Kretz MP,Meyer AM,Kispert A,Heppner FL,Brändli AW, Dev Biol. May 15, 2007; 305(2):1095-564X.

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.

Enhancement of GABA(A)-current run-down in the hippocampus occurs at the first spontaneous seizure in a model of temporal lobe epilepsy., Mazzuferi M,Palma E,Martinello K,Maiolino F,Roseti C,Fucile S,Fabene PF,Schio F,Pellitteri M,Sperk G,Miledi R,Eusebi F,Simonato M, Proc Natl Acad Sci U S A. February 16, 2010; 107(7):1091-6490.

An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing., Yang J,Krishnamoorthy G,Saxena A,Zhang G,Shi J,Yang H,Delaloye K,Sept D,Cui J, Neuron. June 24, 2010; 66(6):0896-6273.

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase., Poulsen H,Khandelia H,Morth JP,Bublitz M,Mouritsen OG,Egebjerg J,Nissen P, Nature. September 2, 2010; 467(7311):0143-5221.

Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures., Steinlein OK, Expert Rev Neurother. December 1, 2010; 10(12):1744-8360.

A neuroprotective role for polyamines in a Xenopus tadpole model of epilepsy., Bell MR,Belarde JA,Johnson HF,Aizenman CD, Nat Neurosci. April 1, 2011; 14(4):1546-1726.

ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome., Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ, Blood. November 10, 2011; 118(19):1528-0020.

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E,López-Hernández T,Capdevila-Nortes X,Sirisi S,Bengtsson L,Montolio M,Zifarelli G,Arnedo T,Müller CS,Schulte U,Nunes V,Martínez A,Jentsch TJ,Gasull X,Pusch M,Estévez R, Neuron. March 8, 2012; 73(5):0896-6273.

Isthmin inhibits glioma growth through antiangiogenesis in vivo., Yuan B,Xian R,Ma J,Chen Y,Chen Y,Lin C,Song Y, J Neurooncol. September 1, 2012; 109(2):1573-7373.

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy., Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O, J Med Genet. February 1, 2013; 50(2):1468-6244.

Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells., De Robertis A,Valensin S,Rossi M,Tunici P,Verani M,De Rosa A,Giordano C,Varrone M,Nencini A,Pratelli C,Benicchi T,Bakker A,Hill J,Sangthongpitag K,Pendharkar V,Liu B,Ng FM,Then SW,Jing Tai S,Cheong SM,He X,Caricasole A,Salerno M, Mol Cancer Ther. July 1, 2013; 12(7):1538-8514.

Ciliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1., Hagenlocher C,Walentek P,M Ller C,Thumberger T,Feistel K, Cilia. April 29, 2013; 2(1):2046-2530.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N,Gautschi I,Mittaz-Crettol L,Kallay Zetchi C,Al-Qusairi L,Van Bemmelen MX,Maeder P,Bonafé L,Schild L,Roulet-Perez E, J Neurol Sci. July 15, 2014; 342(1-2):1878-5883.

The prostaglandin EP1 receptor potentiates kainate receptor activation via a protein kinase C pathway and exacerbates status epilepticus., Rojas A,Gueorguieva P,Lelutiu N,Quan Y,Shaw R,Dingledine R, Neurobiol Dis. October 1, 2014; 70:1095-953X.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy., Simons C,Rash LD,Crawford J,Ma L,Cristofori-Armstrong B,Miller D,Ru K,Baillie GJ,Alanay Y,Jacquinet A,Debray FG,Verloes A,Shen J,Yesil G,Guler S,Yuksel A,Cleary JG,Grimmond SM,McGaughran J,King GF,Gabbett MT,Taft RJ, Nat Genet. January 1, 2015; 47(1):1546-1718.

Properties, regulation, pharmacology, and functions of the K₂p channel, TRESK., Enyedi P,Czirják G, Pflugers Arch. May 1, 2015; 467(5):1432-2013.

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.

Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents., Gilchrist J,Dutton S,Diaz-Bustamante M,McPherson A,Olivares N,Kalia J,Escayg A,Bosmans F, ACS Chem Biol. May 16, 2014; 9(5):1554-8937.

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E,Sicca F,Brignone MS,D'Adamo MC,Napolitano C,Servettini I,Moro F,Ruan Y,Guglielmi L,Pieroni S,Servillo G,Lanciotti A,Valvo G,Catacuzzeno L,Franciolini F,Molinari P,Marchese M,Grottesi A,Guerrini R,Santorelli FM,Priori S,Pessia M, Hum Mol Genet. September 15, 2014; 23(18):1460-2083.

GABAA currents are decreased by IL-1β in epileptogenic tissue of patients with temporal lobe epilepsy: implications for ictogenesis., Roseti C,van Vliet EA,Cifelli P,Ruffolo G,Baayen JC,Di Castro MA,Bertollini C,Limatola C,Aronica E,Vezzani A,Palma E, Neurobiol Dis. October 1, 2015; 82:1095-953X.

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.

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy., Weltzin MM,Lindstrom JM,Lukas RJ,Whiteaker P, Neuropharmacology. March 1, 2016; 102:1873-7064.

Polyunsaturated fatty acids are potent openers of human M-channels expressed in Xenopus laevis oocytes., Liin SI,Karlsson U,Bentzen BH,Schmitt N,Elinder F, Acta Physiol (Oxf). September 1, 2016; 218(1):1748-1716.

The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A., Lykke K,Töllner K,Feit PW,Erker T,MacAulay N,Löscher W, Epilepsy Behav. June 1, 2016; 59:1525-5069.

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy., Sicca F,Ambrosini E,Marchese M,Sforna L,Servettini I,Valvo G,Brignone MS,Lanciotti A,Moro F,Grottesi A,Catacuzzeno L,Baldini S,Hasan S,D'Adamo MC,Franciolini F,Molinari P,Santorelli FM,Pessia M, Sci Rep. September 28, 2016; 6:2045-2322.

Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression., Nichols WA,Henderson BJ,Marotta CB,Yu CY,Richards C,Dougherty DA,Lester HA,Cohen BN, PLoS One. January 1, 2016; 11(6):1932-6203.

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.

Mechanosensory Stimulation Evokes Acute Concussion-Like Behavior by Activating GIRKs Coupled to Muscarinic Receptors in a Simple Vertebrate., Li WC,Zhu XY,Ritson E, eNeuro. January 1, 2017; 4(2):2373-2822.

Antidepressant, anticonvulsant and antinociceptive effects of 3'-methoxy-6-methylflavone and 3'-hydroxy-6-methylflavone may involve GABAergic mechanisms., Karim N,Khan I,Ahmad N,Umar MN,Gavande N, Pharmacol Rep. October 1, 2017; 69(5):1734-1140.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies., Masnada S,Hedrich UBS,Gardella E,Schubert J,Kaiwar C,Klee EW,Lanpher BC,Gavrilova RH,Synofzik M,Bast T,Gorman K,King MD,Allen NM,Conroy J,Ben Zeev B,Tzadok M,Korff C,Dubois F,Ramsey K,Narayanan V,Serratosa JM,Giraldez BG,Helbig I,Marsh E,O'Brien M,Bergqvist CA,Binelli A,Porter B,Zaeyen E,Horovitz DD,Wolff M,Marjanovic D,Caglayan HS,Arslan M,Pena SDJ,Sisodiya SM,Balestrini S,Syrbe S,Veggiotti P,Lemke JR,Møller RS,Lerche H,Rubboli G, Brain. September 1, 2017; 140(9):1460-2156.

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy., Gururaj S,Palmer EE,Sheehan GD,Kandula T,Macintosh R,Ying K,Morris P,Tao J,Dias KR,Zhu Y,Dinger ME,Cowley MJ,Kirk EP,Roscioli T,Sachdev R,Duffey ME,Bye A,Bhattacharjee A, Cell Rep. October 24, 2017; 21(4):2211-1247.

Gain-of-function HCN2 variants in genetic epilepsy., Li M,Maljevic S,Phillips AM,Petrovski S,Hildebrand MS,Burgess R,Mount T,Zara F,Striano P,Schubert J,Thiele H,Nürnberg P,Wong M,Weisenberg JL,Thio LL,Lerche H,Scheffer IE,Berkovic SF,Petrou S,Reid CA, Hum Mutat. February 1, 2018; 39(2):1098-1004.

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.

Functional Reintegration of Sensory Neurons and Transitional Dendritic Reduction of Mitral/Tufted Cells during Injury-Induced Recovery of the Larval Xenopus Olfactory Circuit., Hawkins SJ,Weiss L,Offner T,Dittrich K,Hassenklöver T,Manzini I, Front Cell Neurosci. July 21, 2017; 11:1662-5102.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy., Becker F,Reid CA,Hallmann K,Tae HS,Phillips AM,Teodorescu G,Weber YG,Kleefuss-Lie A,Elger C,Perez-Reyes E,Petrou S,Kunz WS,Lerche H,Maljevic S, Epilepsia Open. August 5, 2017; 2(3):2470-9239.

The Effects of 4-Hydroxybenzoic Acid Identified from Bamboo (Dendrocalamus asper) Shoots on Kv1.4 Channel., Zhang J,Mohamad FH,Wong JH,Mohamad H,Ismail AH,Mohamed Yusoff AA,Osman H,Wong KT,Idris Z,Abdullah JM, Malays J Med Sci. February 1, 2018; 25(1):1394-195X.

Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain., Reimers C,Lee CH,Lee CH,Lee CH,Kalbacher H,Tian Y,Hung CH,Schmidt A,Prokop L,Kauferstein S,Mebs D,Chen CC,Gründer S, Proc Natl Acad Sci U S A. April 25, 2017; 114(17):1091-6490.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study., May P,Girard S,Harrer M,Bobbili DR,Schubert J,Wolking S,Becker F,Lachance-Touchette P,Meloche C,Gravel M,Niturad CE,Knaus J,De Kovel C,Toliat M,Polvi A,Iacomino M,Guerrero-López R,Baulac S,Marini C,Thiele H,Altmüller J,Jabbari K,Ruppert AK,Jurkowski W,Lal D,Rusconi R,Cestèle S,Terragni B,Coombs ID,Reid CA,Striano P,Caglayan H,Siren A,Everett K,Møller RS,Hjalgrim H,Muhle H,Helbig I,Kunz WS,Weber YG,Weckhuysen S,Jonghe P,Sisodiya SM,Nabbout R,Franceschetti S,Coppola A,Vari MS,Kasteleijn-Nolst Trenité D,Baykan B,Ozbek U,Bebek N,Klein KM,Rosenow F,Nguyen DK,Dubeau F,Carmant L,Lortie A,Desbiens R,Clément JF,Cieuta-Walti C,Sills GJ,Auce P,Francis B,Johnson MR,Marson AG,Berghuis B,Sander JW,Avbersek A,McCormack M,Cavalleri GL,Delanty N,Depondt C,Krenn M,Zimprich F,Peter S,Nikanorova M,Kraaij R,van Rooij J,Balling R,Ikram MA,Uitterlinden AG,Avanzini G,Schorge S,Petrou S,Mantegazza M,Sander T,LeGuern E,Serratosa JM,Koeleman BPC,Palotie A,Lehesjoki AE,Nothnagel M,Nürnberg P,Maljevic S,Zara F,Cossette P,Krause R,Lerche H, Lancet Neurol. August 1, 2018; 17(8):1474-4465.

Lack of response to quinidine in KCNT1-related neonatal epilepsy., Numis AL,Nair U,Datta AN,Sands TT,Oldham MS,Patel A,Li M,Gazina E,Petrou S,Cilio MR, Epilepsia. October 1, 2018; 59(10):1528-1167.

S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.

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.

The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region., Tapken D,Steffensen TB,Leth R,Kristensen LB,Gerbola A,Gajhede M,Jørgensen FS,Olsen L,Kastrup JS, Sci Rep. April 7, 2017; 7:2045-2322.

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance., Berland S,Toft-Bertelsen TL,Aukrust I,Byska J,Vaudel M,Bindoff LA,MacAulay N,Houge G, Cold Spring Harb Mol Case Stud. February 1, 2018; 4(1):2373-2873.

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The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.

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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.

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In vitro and in vivo characterization of Lu AA41178: A novel, brain penetrant, pan-selective Kv7 potassium channel opener with efficacy in preclinical models of epileptic seizures and psychiatric disorders., Grupe M,Bentzen BH,Benned-Jensen T,Nielsen V,Frederiksen K,Jensen HS,Jacobsen AM,Skibsbye L,Sams AG,Grunnet M,Rottländer M,Bastlund JF, Eur J Pharmacol. November 15, 2020; 887:1879-0712.

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A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D,Gallagher CI,Shimmon S,Rawling T,Vandenberg RJ, Biomolecules. November 30, 2020; 10(12):2218-273X.

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.

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Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.

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Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.

Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures., Weltzin MM,George AA,Lukas RJ,Whiteaker P, PLoS One. March 3, 2021; 16(3):1932-6203.

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy., Bleakley LE,McKenzie CE,Soh MS,Forster IC,Pinares-Garcia P,Sedo A,Kathirvel A,Churilov L,Jancovski N,Maljevic S,Berkovic SF,Scheffer IE,Petrou S,Santoro B,Reid CA, Brain. August 17, 2021; 144(7):1460-2156.

Dissecting the Molecular Determinants of GABAA Receptors Current Rundown, a Hallmark of Refractory Human Epilepsy., Cifelli P,Di Angelantonio S,Alfano V,Morano A,De Felice E,Aronica E,Ruffolo G,Palma E, Brain Sci. March 30, 2021; 11(4):2076-3425.

WIN55,212-2, a Dual Modulator of Cannabinoid Receptors and G Protein-Coupled Inward Rectifier Potassium Channels., An D,Peigneur S,Tytgat J, Biomedicines. April 28, 2021; 9(5):2227-9059.

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP., Soh MS,Bagnall RD,Bennett MF,Bleakley LE,Mohamed Syazwan ES,Phillips AM,Chiam MDF,McKenzie CE,Hildebrand M,Crompton D,Bahlo M,Semsarian C,Scheffer IE,Berkovic SF,Reid CA, Ann Clin Transl Neurol. July 1, 2021; 8(7):2328-9503.

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A role for zinc transporter gene SLC39A12 in the nervous system and beyond., Davis DN,Strong MD,Chambers E,Hart MD,Bettaieb A,Clarke SL,Smith BJ,Stoecker BJ,Lucas EA,Lin D,Chowanadisai W, Gene. October 5, 2021; 799:1879-0038.

Crosstalk between repair pathways elicits double-strand breaks in alkylated DNA and implications for the action of temozolomide., Fuchs RP,Isogawa A,Paulo JA,Onizuka K,Takahashi T,Amunugama R,Duxin JP,Fujii S, Elife. July 8, 2021; 10:2050-084X.

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.

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.

Discovery of Dihydropyrrolo[1,2-a]pyrazin-3(4H)-one-Based Second-Generation GluN2C- and GluN2D-Selective Positive Allosteric Modulators (PAMs) of the N-Methyl-d-Aspartate (NMDA) Receptor., Epplin MP,Mohan A,Harris LD,Zhu Z,Strong KL,Bacsa J,Le P,Menaldino DS,Traynelis SF,Liotta DC, J Med Chem. July 23, 2020; 63(14):1520-4804.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.

Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family., Custódio TF,Paulsen PA,Frain KM,Pedersen BP, Life Sci Alliance. February 3, 2021; 4(4):2575-1077.

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.

Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.

Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders., Martin M,Vermeiren S,Bostaille N,Eubelen M,Spitzer D,Vermeersch M,Profaci CP,Pozuelo E,Toussay X,Raman-Nair J,Tebabi P,America M,De Groote A,Sanderson LE,Cabochette P,Germano RFV,Torres D,Boutry S,de Kerchove d'Exaerde A,Bellefroid EJ,Phoenix TN,Devraj K,Lacoste B,Daneman R,Liebner S,Vanhollebeke B, Science. February 18, 2022; 375(6582):1095-9203.

Pharmacological characterization of a novel negative allosteric modulator of NMDA receptors, UBP792., Sapkota K,Burnell ES,Irvine MW,Fang G,Gawande DY,Dravid SM,Jane DE,Monaghan DT, Neuropharmacology. December 15, 2021; 201:1873-7064.

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA,Hinojo-Perez A,Wu X,Perez Rodriguez ME,Barro-Soria R, Elife. June 1, 2022; 11:2050-084X.

Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery., Williams RE,Mruk K, Int J Mol Sci. August 3, 2022; 23(15):1422-0067.

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome., Treimer E,Kalayci T,Schumann S,Suer I,Greco S,Schanze D,Schmeisser MJ,Kühl SJ,Zenker M, Hum Mutat. December 1, 2022; 43(12):1098-1004.

GABAA receptor function is enhanced by Interleukin-10 in human epileptogenic gangliogliomas and its effect is counteracted by Interleukin-1β., Ruffolo G,Alfano V,Romagnolo A,Zimmer T,Mills JD,Cifelli P,Gaeta A,Morano A,Anink J,Mühlebner A,Vezzani A,Aronica E,Palma E, Sci Rep. October 26, 2022; 12(1):2045-2322.

De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy., Salpietro V,Galassi Deforie V,Efthymiou S,O'Connor E,Marcé-Grau A,Maroofian R,Striano P,Zara F,Morrow MM,Reich A,Blevins A,Sala-Coromina J,Accogli A,Fortuna S,Alesandrini M,Au PYB,Singhal NS,Cogne B,Isidor B,Hanna MG,Macaya A,Kullmann DM,Houlden H,Männikkö R, Epilepsia. February 1, 2023; 64(2):1528-1167.

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.

Inactivation influences the extent of inhibition of voltage-gated Ca+2 channels by Gem-implications for channelopathies., Allam S,Levenson-Palmer R,Chia Chang Z,Kaur S,Cernuda B,Raman A,Booth A,Dobbins S,Suppa G,Yang J,Buraei Z, Front Physiol. January 1, 2023; 14:1664-042X.

Xenopus Ssbp2 is required for embryonic pronephros morphogenesis and terminal differentiation., Cervino AS,Collodel MG,Lopez IA,Roa C,Hochbaum D,Hukriede NA,Cirio MC, Sci Rep. October 4, 2023; 13(1):2045-2322.

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.

Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy., Lossius K,de Saint Martin A,Myren-Svelstad S,Bjørnvold M,Minken G,Seegmuller C,Valenti Hirsch MP,Chelly J,Steinlein O,Picard F,Brodtkorb E, Epilepsy Behav. April 1, 2020; 105:1525-5069.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.

Enhanced Membrane Incorporation of H289Y Mutant GluK1 Receptors from the Audiogenic Seizure-Prone GASH/Sal Model: Functional and Morphological Impacts on Xenopus Oocytes., Díaz-Rodríguez SM,Ivorra I,Espinosa J,Vegar C,Herrero-Turrión MJ,López DE,Gómez-Nieto R,Alberola-Die A, Int J Mol Sci. November 28, 2023; 24(23):1422-0067.

Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide., Zhao R,Qasim A,Sophanpanichkul P,Dai H,Nayak M,Sher I,Chill J,Goldstein SAN, FASEB J. January 1, 2024; 38(1):1530-6860.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.

Toward New AQP4 Inhibitors: ORI-TRN-002., Thormann M,Traube N,Yehia N,Koestler R,Galabova G,MacAulay N,Toft-Bertelsen TL, Int J Mol Sci. January 11, 2024; 25(2):1422-0067.

Novel insights into voltage-gated ion channels: Translational breakthroughs in medical oncology., Sakellakis M,Yoon SM,Reet J,Chalkias A, Channels (Austin). December 1, 2024; 18(1):1933-6969.