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Basic Research

Genetics and epilepsy

Genética y epilepsia

Génétique et épilepsie

REFERENCES

  • GreenbergDA.PalDK.The state of the art in the genetic analysis of the epilepsies.Curr Neurol Neurosci Rep.2007732032817618539
  • AndradeDM.MinassianBA.Genetics of epilepsies.Exp Rev Neurother.20077727734
  • AvanziniG.FranceschettiS.MantegazzaM.Epileptogenic channelopathies: experimental models of human pathologies.Epilepsia.200748 (suppl 2)516417571353
  • SchefferIE.BhatiaKP.Lopes-CendesI.et al.Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder.Brain.199511861737895015
  • SteinleinO.MulleyJC.ProppingP.et al.A missense mutation in the neuronal nico-tinic acetylcholine receptor 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.Nat Genet.1995112012037550350
  • FuscoMD.BecchettiA.PatrignaniA.et al.The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy.Nat Genet.20002627527611062464
  • PhillipsHA.FavreI.KirkpatrickM.et al.CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.Am J Hum Genet.20016822523111104662
  • AridonP.MariniC.Di RestaC.et al.Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.Am J Hum Genet.2006734235016826524
  • SteinleinOK.Genetic disorders caused by mutated acetylcholine receptors.Life Sci.2007802186219017434185
  • MagnussonA.StordalE.BrodtkorbE.SteinleinO.Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy.Psychiat Genet.2003139195
  • SteinleinOK.MagnussonA.StoodtJ.et al.An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.Hum Mol Genet.199769439479175743
  • BertrandD.PicardF.Le HellardS.et al.How mutations in the nAChRs can cause ADNFLE epilepsy.Epilepsia.200243 (suppl 5)11212212121305
  • RonenGM.RosalesTO.ConnollyM.AndersonVE.LeppertM.Seizure characteristics in chromosome 20 benign familial neonatal convulsions.Neurology.199343135513608327138
  • DedekK.FuscoL.TeloyN.SteinleinOK.Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.Epilepsy Res.200354212712742592
  • SchmittB.WohlrabG.SanderT.SteinleinOK.HajnalBL.Neonatal seizures with tonic clonic sequences and poor developmental outcome.Epilepsy Res.20056516116816039833
  • BiervertC.SchroederBC.KubischC.et al.A potassium channel mutation in neonatal human epilepsy.Science.19982794034069430594
  • CharlierC.SinghNA.RyanSG.et al.A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.Nat Genet.19981853559425900
  • SinghNA.CharlierC.StaufferD.et al.A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Nat Genet.19981825299425895
  • WangHS.OanZ.ShiW.et al.KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.Science.1998282189018939836639
  • WatanabeH.NagataE.KosakaiA.et al.Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability.J Neurochem.200075283310854243
  • DedekK.KunathB.KananuraC.ReunerU.JentschTJ.SteinleinOK.Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.Proc Natl Acad Sci USA.200198122721227711572947
  • VigevanoF.FuscoL.Di CapuaM.RicciS.SebastianelliR.LucchiniP.Benign infantile familial convulsions.Europ J Pediat.19921516086121505581
  • HeronSE.CrosslandKM.AndermannE.et al.Sodium-channel defects in benign familial neonatal-infantile seizures.Lancet.200236085185212243921
  • SchefferIE.BerkovicSF.Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.Brain.19971204794909126059
  • WallaceRH.WangDW.SinghR.et al.Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B.Nat Genet.1998193663709697698
  • EscaygA.MacDonaldBT.MeislerMH.et al.Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.Nat Genet.20002434334510742094
  • ClaesL.CeulemansB.AudenaertD.et al.De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.Hum Mutat.20032161562112754708
  • RhodesTH.LossinC.VanoyeCG.WangDW.GeorgeAL. Jr.Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.Proc Natl Acad Sci USA.2004101111471115215263074
  • KalachikovS.EvgrafovO.RossB.et al.Mutations in LG11 cause autosomal-dominant partial epilepsy with auditory features.Nat Genet.20023033534111810107
  • WinawerMR.OttmanR.HauserWA.PedleyTA.Autosomal dominant partial epilepsy with auditory features: defining the phenotype.Neurology.2000542173217610851389
  • GuW.BrodtkorbE.SteinleinOK.LG11 is mutated in familial temporal lobe epilepsy characterized by aphasie seizures.Ann Neurol.20025236436712205652
  • StaubE.Perez-TurJ.SiebertR.et al.The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.Trends Biochem Sci.20022744144412217514
  • GuW.WeversA.SchröderH.et al.The LG11 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. .FEBS Lett.2002519717612023020
  • FukataY.AdesnikH.IwanagaT.BredtDS.NicollRA.FukataM.Epilepsy-related ligand/receptor complex LG11 and ADAM22 regulate synaptic transmission.Science.20063131792179516990550
  • NakayamaJ.FuYH.ClarkAM.et al.A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.Ann Neurol.20025265465712402266
  • LafreniereRG.RochefortDL.ChretienN.et al.Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.Nat Genet.1997152983029054946
  • PennacchioLA.BouleyDM.HigginsKM.ScottMP.NoebelsJL.MyersRM.Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.Nat Genet.1998202512589806543
  • LieuallenK.PennacchioLA.ParkM.MyersRM.LennonGG.Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.Hum Mol Genet.2001101867187111555622
  • AlakurttiK.WeberE.RinneR.et al.Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.Eur J Hum Genet.20051320821515483648
  • DiMauroS.DavidzonG.Mitochondrial DNA and disease.Ann Med.20053722223216019721
  • SchonEA.BonillaE.DiMauroS.Mitochondrial DNA mutations and pathogenesis.J Bioenerg Biomembr.1997291311499239539
  • ShoffnerJM.LottMT.LezzaAM.SeibelP.BallingerSW.WallaceDC.Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.Cell.1990619319372112427
  • BouletL.KarpatiG.ShoubridgeEA.Distribution and threshold expression of the tRNA (Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).Am J Hum Genet.199251118712001334369
  • HaltiaM.The neuronal ceroid-lipofuscinoses: from past to present.Biochim Biophys Acta.2006176285085616908122
  • VesaJ.HellstenE.VerkruyseLA.et al.Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.Nature.19953765845877637805
  • van DiggelenOP.ThoboisS.TiliketeC.et al.Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adultonset patients of a childhood disease.Ann Neurol.20015026927211506414
  • SleatDE.DonnellyRJ.LacklandH.et al.Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.Science.1997277180218059295267
  • SavukoskiM.KlockarsT.HolmbergV.SantavuoriP.LanderES.PeltonenL.CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.Nat Genet.1998192862889662406
  • MoleSE.WilliamsRE.GoebelHH.Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.Neurogenetics.2005610712615965709
  • EzakiJ.KominamiE.The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Brain Path.200414778514997940
  • KyttäläA.LahtinenU.BraulkeT.HofmannSL.Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.Biochim Biophys Acta.2006176292093316839750
  • GressensP.Pathogenesis of migration disorders.Curr Opinion Neurol.200619135140
  • OoiL.WoodIC.Chromatin crosstalk in development and disease: lessons from REST.Nat Rev Genet.2007854455417572692