References
- KorffCMSchefferIEEpilepsy classification: a cycle of evolution and revolutionCurr Opin Neurol201326216316723406910
- BergATBerkovicSFBrodieMJRevised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009Epilepsia201051467668520196795
- BanerjeePNFilippiDHauserWAThe descriptive epidemiology of epilepsy – a reviewEpilepsy Res2009851314519369037
- BrowneTRHolmesGLHandbook of Epilepsy4th edPhiladelphia, PALippincott Williams & Wilkins2008
- WHO [webpage on the Internet]WHO Fact Sheet on Epilepsy [updated February 2017] Available from: http://www.who.int/mediacentre/fact-sheets/fs999/en/Accessed April 3, 2017
- NewtonCRGarciaHHEpilepsy in poor regions of the worldLancet201238098481193120123021288
- BerkovicSFMulleyJCSchefferIEPetrouSHuman epilepsies: interaction of genetic and acquired factorsTrends Neurosci200629739139716769131
- MillerLLPellockJMDeLorenzoRJMeyerJMCoreyLAUnivariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin RegistryGenet Epidemiol199815133499523209
- SpeedDO’BrienTJPalotieADescribing the genetic architecture of epilepsy through heritability analysisBrain2014137102680268925063994
- Institute of Medicine (US) Committee on the Public Health Dimensions of the EpilepsiesEnglandMJLivermanCTEpidemiology and preventionEpilepsy Across the Spectrum: Promoting Health and Understanding. (Chap. 3)Washington, DCNational Academies Press (US)2012
- HwangSKHiroseSGenetics of temporal lobe epilepsyBrain Dev201234860961622105092
- FanciulliMDi BonaventuraCEgeoGSuggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26Epilepsy Res2014108223224024315020
- BelhediNBenaFMrabetAA new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous familyBMC Genet2013149324067191
- KullmannDMGenetics of epilepsyJ Neurol Neurosurg Psychiatry200273suppl IIii32ii3512536158
- MoulardBGuipponiMChaigneDMouthonDBuresiCMalafosseAIdentification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33Am J Hum Genet19996551396140010521305
- KrepischiACKnijnenburgJBertolaDRTwo distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsyEpilepsia201051122457246021204806
- HollandKDKearneyJAGlauserTAMutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsyNeurosci Lett20084331657018242854
- PintoDDissecting the Genetic Basis of Idiopathic Epilepsies [PhD thesis]Utrecht University200690-393-4191-5
- GreenbergDADelgado-EscuetaAVWidelitzHJuvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6Am J Med Genet19883111851923146924
- WeissbeckerKADurnerMJanzDScaramelliASparkesRSSpenceMAConfirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6Am J Med Genet199138132361901452
- PalDKEvgrafovOVTabaresPZhangFDurnerMGreenbergDABRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsyAm J Hum Genet200373226127012830434
- LayouniSBuresiCThomasPMalafosseADoguiMBRD2 and TAP-1 genes and juvenile myoclonic epilepsyNeurol Sci2010311535619953286
- VelíšekLShangEVelíškováJGABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsyPLoS One201168e2365621887291
- SainzJMinassianBASerratosaJMLafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygositiesAm J Hum Genet1997615120512099345091
- MinassianBALeeJRHerbrickJAMutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyNat Genet19982021711749771710
- SinghSGaneshSLafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genesHum Mutat200930571572319267391
- FarhanSMMurphyLMRobinsonJFLinkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxiaEpilepsia2014559e106e11125060828
- KousiMAnttilaVSchulzANovel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneJ Med Genet201249639139922693283
- KrabichlerBRostasyKBaumannMNovel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyAnn Hum Genet201276432633122606975
- AziziehROrduzDVan BogaertPProgressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neuronsMol Neurobiol201144111112121710140
- PlasterNMUyamaEUchinoMGenetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24Neurology19995361180118310522869
- FongGCShahPUGeeMNChildhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24Am J Hum Genet1998634111711299758624
- HolterJCarterDLerescheNCrunelliVVincentPA TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsyJ Mol Neurosci2005251375115781965
- BonagliaMCGiordaRTenconiRA 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotypeEur J Hum Genet200513558659115657611
- HaugKKremerskothenJHallmannKMutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsyMol Cell Probes200014425526010970730
- MoritaRMiyazakiEShahPUCastroviejoIPDelgado-EscuetaAVYamakawaKExclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24Epilepsy Res199937215115810510981
- OttmanRRischNHauserWALocalization of a gene for partial epilepsy to chromosome 10qNat Genet199510156607647791
- MautnerVFLindenauMGotteslebenAGoetzeGKluweLSupporting evidence of a gene for partial epilepsy on 10qNeurogenetics200031313411085594
- WinawerMRMartinelli BoneschiFBarker-CummingsCFour new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24Epilepsia20024316067
- ZaraFGennaroEStabileMMapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13Am J Hum Genet20006651552155710741954
- AfawiZMandelstamSKorczynADTBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformationEpilepsy Res20131051–224024423517570
- CorbettMABahloMJollyLA focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Am J Hum Genet201087337137520797691
- FalaceABuhlerEFaddaMTBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathwayProc Natl Acad Sci U S A201411162337234224469796
- FalaceAFilipelloFLa PadulaVTBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAm J Hum Genet201087336537020727515
- LeeJALupskiJRGenomic rearrangements and gene copy-number alterations as a cause of nervous system disordersNeuron200652110312117015230
- YoonSXuanZMakarovVYeKSebatJSensitive and accurate detection of copy number variants using read depth of coverageGenome Res20091991586159219657104
- MullenSACarvillGLBellowsSCopy number variants are frequent in genetic generalized epilepsy with intellectual disabilityNeurology201381171507151424068782
- MeffordHCMuhleHOstertagPGenome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesPLoS Genet201065e100096220502679
- de KovelCGTrucksHHelbigIRecurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesBrain20101331233219843651
- HeinzenELRadtkeRAUrbanTJRare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromesAm J Hum Genet201086570771820398883
- LiuJYKasperavičiūte˙DMartinianLThomMSisodiyaSMNeuropathology of 16p13.11 deletion in epilepsyPLoS One201274e3481322523559
- MiteffCISmithRLBainNLSubramanianGBrownJEKamienB16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case reportJ Child Neurol2015301838624453159
- GurrieriFBattagliaATorrisiLPervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13Neurology19995281694169710331703
- StewartLRHallALKangSHShawCABeaudetALHigh frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsyBMC Med Genet20111215422118685
- BassukAGGeraghtyEWuSDeletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAm J Med Genet A2013161A71722172523686817
- ReinthalerEMLalDLebonS16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsyHum Mol Genet201423226069608024939913
- NaseerMIFaheemMChaudharyAGGenome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi ArabiaBMC Genomics201516suppl 1S10
- JiangYZhangYZhangPNIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsyHum Genet201213171217122422367439
- ZhaoQLiTZhaoXRare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese populationSchizophr Bull201339371271922317777
- VanlerbergheCPetitFMalanV15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsEur J Med Genet201558314014725596525
- DimassiSLabalmeALescaGA subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2Epilepsia201455237037824372385
- FanciulliMPasiniEMalacridaSCopy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigreesEpilepsia201455101651165825243798
- PootMvan der SmagtJJBrilstraEHBourgeronTDisentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophreniaCytogenet Genome Res20111353–422824022085975
- KimEHYumMSLeeBHEpilepsy and other neuropsychiatric manifestations in children and adolescents with 22q11.2 deletion syndromeJ Clin Neurol2016121859226754781
- KlittenLLMøllerRSNikanorovaMSilahtarogluAHjalgrimHTommerupNA balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)Epilepsia20115212e190e19322050443
- ChenHJRojas-SotoMOguniAKennedyMBA synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase IINeuron19982058959049620694
- Sáez-HernándezLPeralBSanzRCharacterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsyEpilepsy Res2003562–315516314643000
- AndrieuxJRichebourgSDuban-BeduBCharacterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delayEur J Med Genet200851437338118463015
- GuoYBaumLWShamPCTwo-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in ChineseHum Mol Genet20122151184118922116939
- International League Against Epilepsy Consortium on Complex EpilepsiesGenetic determinants of common epilepsies: a meta-analysis of genome-wide association studiesLancet Neurol201413989390325087078
- LyonsPJCallawayMBFrickerLDCharacterization of carboxypeptidase A6, an extracellular matrix peptidaseJ Biol Chem2008283117054706318178555
- SalzmannAGuipponiMLyonsPJCarboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyHum Mutat201233112413521922598
- YalçinOBaykanBAğanKAn association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizuresEpilepsia201152597598321320115
- SapioMRSalzmannAVessazMNaturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsyJ Biol Chem201228751429004290923105115
- CuiPJZhengLCaoLCALHM1 P86L polymorphism is a risk factor for Alzheimer’s disease in the Chinese populationJ Alzheimers Dis2010191313520061624
- Dreses-WerringloerULambertJCVingtdeuxVA polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer’s disease riskCell200813371149116118585350
- BoadaMAntúnezCLópez-ArrietaJCALHM1 P86L polymorphism is associated with late-onset Alzheimer’s disease in a recessive modelJ Alzheimers Dis201020124725120164592
- TaoQQSunYMLiuZJLack of association between CALHM1 p.P86L variation and Alzheimer’s disease in the Han Chinese populationNeurobiol Aging2014358.e13.e14
- LvRJHeJSFuYHA polymorphism in CALHM1 is associated with temporal lobe epilepsyEpilepsy Behav201120468168521439911
- KauffmanMAConsalvoDMoronDGLereisVPKochenSApoE epsilon4 genotype and the age at onset of temporal lobe epilepsy: a case-control study and meta-analysisEpilepsy Res201090323423920554432
- RossignolEKobowKSimonatoMWONOEP appraisal: new genetic approaches to study epilepsyEpilepsia20145581170118624965021
- KlassenTDavisCGoldmanAExome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsyCell201114571036104821703448
- HeinzenELDepondtCCavalleriGLExome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyAm J Hum Genet201291229330222863189
- CherepanovaNSLeslieEFergusonPJBamshadMJBassukAGPresence of epilepsy-associated variants in large exome databasesJ Neurogenet2013271–21423527921
- BarkerRABarasiSNealMJNeuroscience at a GlanceMalden, MABlackwell Publishing20083
- YuFHCatterallWAOverview of the voltage-gated sodium channel familyGenome Biol20034320712620097
- MarbanEYamagishiTTomaselliGFStructure and function of voltage-gated sodium channelsJ Physiol199850836476579518722
- EscaygAMacDonaldBTMeislerMHMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Nat Genet200024434334510742094
- LiNZhangJGuoJFYanXXXiaKTangBSNovel mutation of SCN1A in familial generalized epilepsy with febrile seizures plusNeurosci Lett2010480321121420600615
- HeriniESGunadiFvan KempenMJNovel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancyPediatr Int201052223423919563458
- VanoyeCGGurnettCAHollandKDGeorgeALJrKearneyJANovel SCN3A variants associated with focal epilepsy in childrenNeurobiol Dis20146231332224157691
- MeislerMHKearneyJASodium channel mutations in epilepsy and other neurological disordersJ Clin Invest200511582010201716075041
- KamiyaKKanedaMSugawaraTA nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental declineJ Neurosci200424112690269815028761
- LiaoYAnttonenAKLiukkonenESCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and painNeurology201075161454145820956790
- AudenaertDClaesLCeulemansBLöfgrenAVan BroeckhovenCDe JonghePA deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsyNeurology200361685485614504340
- RangHPDaleMMRitterJMGardnerPPharmacology4th edNew York, NYChurchill Livingstone2001
- GutmanGAChandyKGGrissmerSInternational Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channelsPharmacol Rev200557447350816382104
- BrownDAPassmoreGMNeural KCNQ (Kv7) channelsBr J Pharmacol200915681185119519298256
- WeiADGutmanGAAldrichRChandyKGGrissmerSWulffHInternational Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channelsPharmacol Rev200557446347216382103
- SpauschusAEunsonLHannaMGKullmannDMFunctional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsyAnn N Y Acad Sci199986844244610414318
- BorgattiRZuccaCCavalliniAA novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardationNeurology2004631576515249611
- SoldovieriMVBoutry-KryzaNMilhMNovel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AHum Mutat201435335636724375629
- SimonsCRashLDCrawfordJMutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyNat Genet2015471737725420144
- LeeHLinMCKornblumHIPapazianDMNelsonSFExome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivationHum Mol Genet201423133481348924501278
- LenzenKPHeilsALorenzSSupportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsyEpilepsy Res2005632–311311815725393
- BockenhauerDFeatherSStanescuHCEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsN Engl J Med2009360191960197019420365
- ReicholdMZdebikAALiebererEKCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel functionProc Natl Acad Sci U S A201010732144901449520651251
- VanderverASimonsCSchmidtJLIdentification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsyPediatr Neurol201450111211424120652
- HeronSESmithKRBahloMMissense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsyNat Genet201244111188119023086396
- DaiXHChenWWWangXA novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33Hum Genet2008124442342918830713
- LorenzSHeilsAKasperJMSanderTAllelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsyAm J Med Genet B Neuropsychiatr Genet2007144B1101316958040
- CatterallWAVoltage-gated calcium channelsCold Spring Harb Perspect Biol201138a00394721746798
- JouvenceauAEunsonLHSpauschusAHuman epilepsy associated with dysfunction of the brain P/Q-type calcium channelLancet2001358928480180711564488
- KorsEEMelbergAVanmolkotKRChildhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutationNeurology20046361136113715452324
- ChiozaBOsei-LahANashefLHaplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsyEur J Hum Genet2002101285786412461694
- ChiozaBWilkieHNashefLAssociation between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsyNeurology20015691245124611342703
- EscaygADe WaardMLeeDDCoding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxiaAm J Hum Genet20006651531153910762541
- OhmoriIOuchidaMMikiTA CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancyNeurobiol Dis200832334935418755274
- SteinleinOKMulleyJCProppingPA missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyNat Genet19951122012037550350
- PhillipsHAFavreIKirkpatrickMCHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyAm J Hum Genet200168122523111104662
- GuWBertrandDSteinleinOKA major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikelyNeurosci Lett20074221747617602836
- HernandezCCGurbaKNHuNMacdonaldRLThe GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expressionJ Physiol2011589pt 235857587821930603
- TanakaMOlsenRWMedinaMTHyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsyAm J Hum Genet20088261249126118514161
- NichollsRDKnepperJLGenome organization, function, and imprinting in Prader-Willi and Angelman syndromesAnnu Rev Genomics Hum Genet2001215317511701647
- TanakaMDeLoreyTMDelgado-EscuetaAOlsenRWGABRB3, epilepsy, and neurodevelopmentNoebelsJLAvoliMRogawskiMAOlsenRWDelgado-EscuetaAVSourceJasper’s Basic Mechanisms of the Epilepsies [Internet]4th edBethesda, MDNational Center for Biotechnology Information (US)2012
- CarvillGLReganBMYendleSCGRIN2A mutations cause epilepsy-aphasia spectrum disordersNat Genet20134591073107623933818
- VenkateswaranSMyersKASmithACWhole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutationEpilepsia2014557e75e7924903190
- Morante-RedolatJMGorostidi-PagolaAPiquer-SirerolSMutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsyHum Mol Genet20021191119112811978770
- OhkawaTFukataYYamasakiMAutoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptorsJ Neurosci20133346181611817424227725
- OttmanRWinawerMRKalachikovSLGI1 mutations in autosomal dominant partial epilepsy with auditory featuresNeurology20046271120112615079011
- FukataYAdesnikHIwanagaTBredtDSNicollRAFukataMEpilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmissionScience200631357941792179516990550
- ChenWJLinYXiongZQExome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaNat Genet201143121252125522101681
- IshiiAYasumotoSIharaYGenetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritisBrain Dev201335652453023073245
- HederaPXiaoJPuschmannAMomčilovićDWuSWLeDouxMSNovel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesiaBMC Neurol2012129322985072
- WoodHGenetics: expanding the spectrum of neurological disorders associated with PRRT2 mutationsNat Rev Neurol201281265723165339
- HeronSEGrintonBEKivitySPRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeAm J Hum Genet201290115216022243967
- OkumuraAShimojimaKKubotaTPRRT2 mutation in Japanese children with benign infantile epilepsyBrain Dev201335764164623131349
- WangJLMaoXHuZMMutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseasesNeurosci Lett2013552404523896529
- LiMNiuFZhuXPRRT2 mutant leads to dysfunction of glutamate signalingInt J Mol Sci20151659134915125915028
- SuzukiTDelgado-EscuetaAVAguanKMutations in EFHC1 cause juvenile myoclonic epilepsyNat Genet200436884284915258581
- MedinaMTSuzukiTAlonsoMENovel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsyNeurology200870222137214418505993
- de NijsLLéonCNguyenLEFHC1 interacts with microtubules to regulate cell division and cortical developmentNat Neurosci200912101266127419734894
- ZhaoYShiJWineyMKlymkowskyMWIdentifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signalingDev Biol2016411225726526783883
- BassukAGWallaceRHBuhrAA homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAm J Hum Genet200883557258118976727
- TaoHManakJRSowersLMutations in prickle orthologs cause seizures in flies, mice, and humansAm J Hum Genet201188213814921276947
- LalDReinthalerEMAltmüllerJRBFOX1 and RBFOX3 mutations in rolandic epilepsyPLoS One201389e7332324039908
- LalDTrucksHMøllerRSEMINet ConsortiumEPICURE ConsortiumRare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsyEpilepsia201354226527123350840
- FogelBLWexlerEWahnichARBFOX1 regulates both splicing and transcriptional networks in human neuronal developmentHum Mol Genet201221194171418622730494
- LiYISanchez-PulidoLHaertyWPontingCPRBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcriptsGenome Res2015251113
- GehmanLTStoilovPMaguireJThe splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brainNat Genet201143770671121623373
- Weyn-VanhentenryckSMMeleAYanQHITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autismCell Rep2014661139115224613350
- DibbensLMde VriesBDonatelloSMutations in DEPDC5 cause familial focal epilepsy with variable fociNat Genet201345554655123542697
- PicardFMakrythanasisPNavarroVDEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsyNeurology201482232101210624814846
- IshidaSPicardFRudolfGMutations of DEPDC5 cause autosomal dominant focal epilepsiesNat Genet201345555255523542701
- SchefferIEHeronSEReganBMMutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsAnn Neurol201475578278724585383
- BaulacSGenetics advances in autosomal dominant focal epilepsies: focus on DEPDC5Prog Brain Res201421312313925194487
- PoduriADEPDC5 does it all: shared genetics for diverse epilepsy syndromesAnn Neurol201475563163324753000
- HallmannKZsurkaGMoskau-HartmannSA homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsyNeurology201483232183218725361775
- ArsovTSmithKRDamianoJKufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Am J Hum Genet201188556657321549341
- KarkheiranSKrebsCEMakarovVIdentification of COL6A2 mutations in progressive myoclonus epilepsy syndromeHum Genet2013132327528323138527
- CorbettMASchwakeMBahloMA mutation in the Golgi Qb-SNARE Gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaAm J Hum Genet201188565766321549339
- BerkovicSFDibbensLMOshlackAArray-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisAm J Hum Genet200882367368418308289
- Pulido FontesLQuesada JimenezPMendioroz IriarteMEpigenetics and epilepsyNeurologia201530211111824851699
- HwangJYAromolaranKAZukinRSEpigenetic mechanisms in stroke and epilepsyNeuropsychopharmacology201338116718222892394
- EggerGLiangGAparicioAJonesPAEpigenetics in human disease and prospects for epigenetic therapyNature2004429699045746315164071
- GräffJKimDDobbinMMTsaiLHEpigenetic regulation of gene expression in physiological and pathological brain processesPhysiol Rev201191260364921527733
- KobowKJeskeIHildebrandtMIncreased reelin promoter methylation is associated with granule cell dispersion in human temporal lobe epilepsyJ Neuropathol Exp Neurol200968435636419287316
- Miller-DelaneySFDasSSanoTDifferential DNA methylation patterns define status epilepticus and epileptic toleranceJ Neurosci20123251577158822302800
- KobowKBlümckeIThe emerging role of DNA methylation in epileptogenesisEpilepsia201253suppl 9112023216575
- HenshallDCKobowKEpigenetics and epilepsyCold Spring Harb Perspect Med2015512a02273126438606
- HuangYDohertyJJDingledineRAltered histone acetylation at glutamate receptor 2 and brain-derived neurotrophic factor genes is an early event triggered by status epilepticusJ Neurosci200222198422842812351716
- SngJCTaniuraHYonedaYHistone modifications in kainate-induced status epilepticusEur J Neurosci20062351269128216553789
- TsankovaNMKumarANestlerEJHistone modifications at gene promoter regions in rat hippocampus after acute and chronic electroconvulsive seizuresJ Neurosci200424245603561015201333
- Jimenez-MateosEMHenshallDCEpilepsy and microRNANeuroscience201323821822923485811
- MollinariCRacanielloMBerryAmiR-34a regulates cell proliferation, morphology and function of newborn neurons resulting in improved behavioural outcomesCell Death Dis20156e162225633291
- BavamianSMelliosNLalondeJDysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorderMol Psychiatry201520557358425623948
- HuKXieYYZhangCMicroRNA expression profile of the hippocampus in a rat model of temporal lobe epilepsy and miR-34a-targeted neuroprotection against hippocampal neurone cell apoptosis post-status epilepticusBMC Neurosci20121311522998082
- MeldrumBSRogawskiMAMolecular targets for antiepileptic drug developmentNeurotherapeutics200741186117199015
- BozziYCasarosaSCaleoMEpilepsy as a neurodevelopmental disorderFront Psychiatry201231922457654
- SawyerNTEscaygAStress and epilepsy: multiple models, multiple outcomesJ Clin Neurophysiol201027644545221076337
- HartmanJL4thGarvikBHartwellLPrinciples for the buffering of genetic variationScience200129155061001100411232561
- SkinnerMKEnvironmental epigenetics and a unified theory of the molecular aspects of evolution: a neo-lamarckian concept that facilitates neo-Darwinian evolutionGenome Biol Evol2015751296130225917417
- FeinbergAPThe epigenetics of cancer etiologySemin Cancer Biol200414642743215489135
- MalacarneMGennaroEMadiaFBenign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityAm J Hum Genet20016861521152611326335
- EPICURE ConsortiumLeuCde KovelCGGenome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsiesEpilepsia201253230831822242659
- DeprezLClaesLRClaeysKGGenome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutationHum Genet2006118561862516273391
- BaiDAlonsoMEMedinaMTJuvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico familiesAm J Med Genet2002113326827412439895
- LayouniSChouchaneLMalafosseADoguiMDimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tuni-sian with idiopathic generalized epilepsiesInt J Immunogenet201037211712320141545
- PintoDKasteleijn-Nolst TrenitéDGCordellHJExplorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity lociGenet Epidemiol2007311425017123300
- PuranamRSJainSKleindienstAMA locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26Ann Neurol200558344945816130088
- NeubauerBAFiedlerBHimmeleinBCentrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14Neurology1998516160816129855510
- ZaraFBianchiAAvanziniGMapping of genes predisposing to idiopathic generalized epilepsyHum Mol Genet199547120112078528209
- Morales-CorralizaJGómez-GarrePSanzRDíaz-OteroFGutiérrez-DelicadoESerratosaJMFamilial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12Epilepsia20105191910191420659149
- Goeggel SimonettiBRieublandCCourageCDuplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsyEpilepsia201253122128213423016767