| 1 | A clinical and genetic study of 33 new cases with ear ly-onset absence epilepsy. (21546213) | Giordano L.... Striano P. | 2011 | SLC2A1 |
| 2 | Absence epilepsies with widely variable onset are a k ey feature of familial GLUT1 deficiency. (20574033) | Mullen S.A.... Scheffer I.E. | 2010 | SLC2A1 |
| 3 | Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. (20621801) | Urbizu A.... Macaya A. | 2010 | SLC2A1 |
| 4 | A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy. (19144837) | Powell K.L.... O'Brien T.J. | 2009 | CACNA1H |
| 5 | Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy. (19211869) | Ernst W.L.... Noebels J.L. | 2009 | CACNA1G |
| 6 | Early-onset absence epilepsy caused by mutations in t he glucose transporter GLUT1. (19798636) | Suls A.... Scheffer I.E. | 2009 | SLC2A1 |
| 7 | The ketogenic diet has no effect on the expression of spike-and-wave discharges and nutrient transporters in genetic absence epilepsy rats from Strasbourg. (19393029) | Nehlig A.... Vannucci S.J. | 2009 | SLC16A1, SLC16A7 |
| 8 | Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (18514161) | Tanaka M.... Delgado-Escueta A.V. | 2008 | GABRB3 |
| 9 | Gene expression analysis in absence epilepsy using a monozygotic twin design. (18435749) | Helbig I.... Hayward N.K. | 2008 | EGR1, RCN2 |
| 10 | Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. (18321734) | Bahi-Buisson N.... de Lonlay P. | 2008 | GLUD1 |
| 11 | Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. (17580110) | Everett K.... Gardiner M. | 2007 | CLCN2 |
| 12 | The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations. (17215393) | Vitko I.... Perez-Reyes E. | 2007 | CACNA1H |
| 13 | Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. (17156077) | Liang J.... Wu X. | 2007 | CACNA1H |
| 14 | Linkage and association analysis of CACNG3 in childhood absence epilepsy. (17264864) | Everett K.V.... Gardiner M. | 2007 | CACNG3 |
| 15 | A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. (16718694) | Maljevic S.... Heils A. | 2006 | GABRA1 |
| 16 | A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. (16835263) | Urak L.... Fuchs K. | 2006 | GABRB3 |
| 17 | Evaluation of CACNA1H in European patients with childhood absence epilepsy. (16504478) | Chioza B.... Gardiner R.M. | 2006 | CACNA1H |
| 18 | CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. (16939858) | Wang J.... Wu X. | 2006 | CACNA1I |
| 19 | New variants in the CACNA1H gene identified in childhood absence epilepsy. (16905256) | Liang J.... Wu X. | 2006 | CACNA1H |
| 20 | A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy. (15781965) | Holter J.... Vincent P. | 2005 | KCNK9 |
| 21 | Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. (15888660) | Vitko I.... Perez-Reyes E. | 2005 | CACNA1H |
| 22 | Uptake of GABA and activity of GABA transaminase in blood platelets from children with absence epilepsy. (15532543) | Rainesalo S.... Keranen T. | 2004 | ABAT |
| 23 | Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. (15483044) | Imbrici P.... Hanna M.G. | 2004 | CACNA1A |
| 24 | The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. (15470132) | Kang J.Q.... Macdonald R.L. | 2004 | GABRG2 |
| 25 | Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027) | Cortez M.A.... Snead O.C. | 2004 | ALDH5A1 |
| 26 | Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. (14505228) | Gu W.... Steinlein O.K. | 2004 | LGI4 |
| 27 | Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. (15134710) | Dervent A.... Yalcinkaya C. | 2004 | ALDH5A1 |
| 28 | Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. (15498372) | Lu J.J.... Wu X.R. | 2004 | GABRB3, GABRA5 |
| 29 | T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population. (12676336) | Chen Y.... Wu X. | 2003 | CACNA1G |
| 30 | A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. (14504340) | Audenaert D.... De Jonghe P. | 2003 | SCN1B |
| 31 | Association of child absence epilepsy with T-STAR gene (12921630) | Chen Y.C.... Wu X.R. | 2003 | KHDRBS3 |
| 32 | Association between genetic variation of CACNA1H and childhood absence epilepsy. (12891677) | Chen Y.... Wu X. | 2003 | CACNA1H |
| 33 | Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. (11920863) | Izzi C.... Barlati S. | 2002 | GRIK1 |
| 34 | Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. (11904235) | Robinson R.... Gardiner R.M. | 2002 | GABBR1, ECA1 |
| 35 | A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. (12117362) | Kananura C.... Steinlein O.K. | 2002 | GABRG2 |
| 36 | Association analysis of childhood absence epilepsy by microsatellite DNA. (12194792) | Lu J.... Wu X. | 2002 | GABRB3 |
| 37 | Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies. (11857586) | Kananura C.... Steinlein O.K. | 2002 | KCNK9 |
| 38 | Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy. (12384214) | Lu J.... Wu X. | 2002 | GABRG2 |
| 39 | Case-control study and transmission/disequilibrium test of childhood absence epilepsy (12048673) | Lu J.... Wu X. | 2002 | GABRB3, GABRA5 |
| 40 | T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. (11463515) | Sugimoto Y.... Yamakawa K. | 2001 | CELF2, KHDRBS3 |
| 41 | Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. (11326275) | Wallace R.H.... Berkovic S.F. | 2001 | GABRG2 |
| 42 | Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. (10690754) | Sander T.... Hoehe M.R. | 2000 | OPRM1 |
| 43 | Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. (10995568) | Sugimoto Y.... Yamakawa K. | 2000 | ECA1 |
| 44 | Glial glutamate transporter mRNAs in the genetically absence epilepsy rat from Strasbourg. (10648892) | Ingram E.M.... Emson P.C. | 2000 | SLC1A3, SLC1A2 |
| 45 | Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. (10510981) | Morita R.... Yamakawa K. | 1999 | ECA1 |
| 46 | Possible association between childhood absence epilepsy and the gene encoding GABRB3. (10509183) | Feucht M.... Aschauer H. | 1999 | GABRA5 |
| 47 | JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (9675132) | Morita R.... Yamakawa K. | 1998 | JRK |
| 48 | The 5-HT1A agonist 8-OH-DPAT increases the number of spike-wave discharges in a genetic rat model of absence epilepsy. (9757054) | Gerber K.... Bagdy G. | 1998 | HTR1A |
| 49 | Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. (9758624) | Fong G.C.... Delgado-Escueta A.V. | 1998 | ECA1 |
| 50 | Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (9259378) | Sander T.... Janz D. | 1997 | GRIK1 |
