6533b7cefe1ef96bd12572d5

RESEARCH PRODUCT

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Darina PrchalovaPhilippe Pm CampeauBénédicte Duban-beduJacques L. MichaudMarije KoopmansArnold MunnichArnold MunnichArnold MunnichChristel DepienneChristel DepienneChristel DepienneMarilyn TallotFadi F. HamdanEveline HagebeukMarie-laure MoutardAnna KaminskaPetra LaššuthováKathryn G. MillerAnge Line BruelXilma Xr Ortiz-gonzalezShoji IchikawaIngo HelbigEthan Em GoldbergSarah WeckhuysenDaphné LehalleElena GardellaMarie-bertille DehouckClaude BesmondClaude BesmondPatrick EderyChristine IoosPauline MarzinChristine CoubesJulien BurattiRima NabboutRima NabboutRima NabboutHubert JournelAudrey PutouxGiulia BarciaGiulia BarciaGiulia BarciaLaurence HubertLaurence HubertClaire DavidsonBerten CeulemansAna Ag CristanchoFiona CunninghamChloé QuélinChristèle DubourgAoife Ac McmahonThomas SmolDelphine HéronKatalin ŠTěrbováKatherine L. HelbigBoris KerenIvan ShelihanDamien LedererRikke Rs MøllerEmílie VyhnálkováAlyssa R. RosenNatasha ShurJulie GauthierDragan MarjanovicBerge Ba MinassianMarleen SimonLedia BrungaGuillaume SmitsSandra JanssensCatheline VilainGaetan LescaCaroline NavaJasper J. Van Der SmagtLaurent VillardCyril MignotSamuel P. YangJoelle RoumeJulie SobletJm PinardStéphanie Gobin-limballeBobby P. C. KoelemanMiroslava HancarovaElizabeth J. DonnerNienke Ne VerbeekMarie-line JacquemontMarjan J. A. Van KempenJulia MetreauDavid GenevièveJoannella MoralesPeter M. Van HasseltChristine BarneriasCaroline LacosteClaire BarClaire BarClaire BarThierry BienvenuMathieu MilhElsa Rossignol

subject

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

description

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

yearjournalcountryeditionlanguage
2019-04-01
10.1038/s41436-018-0268-1http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187