000140830 001__ 140830
000140830 005__ 20240430120014.0
000140830 0247_ $$2doi$$a10.1002/acn3.50799
000140830 0247_ $$2pmid$$apmid:31353862
000140830 0247_ $$2pmc$$apmc:PMC6649617
000140830 0247_ $$2altmetric$$aaltmetric:73115039
000140830 037__ $$aDZNE-2020-07152
000140830 041__ $$aEnglish
000140830 082__ $$a610
000140830 1001_ $$aPark, Joohyun$$b0
000140830 245__ $$aKCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
000140830 260__ $$aChichester [u.a.]$$bWiley$$c2019
000140830 264_1 $$2Crossref$$3online$$bWiley$$c2019-06-07
000140830 264_1 $$2Crossref$$3print$$bWiley$$c2019-07-01
000140830 3367_ $$2DRIVER$$aarticle
000140830 3367_ $$2DataCite$$aOutput Types/Journal article
000140830 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1714463232_8223
000140830 3367_ $$2BibTeX$$aARTICLE
000140830 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000140830 3367_ $$00$$2EndNote$$aJournal Article
000140830 520__ $$aA recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). Functional analyses demonstrated no measurable currents for all identified variants and dominant-negative effects for p.Thr399Met and p.Ala421Val predicting neuronal disinhibition as the underlying disease mechanism.
000140830 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000140830 542__ $$2Crossref$$i2019-06-07$$uhttp://creativecommons.org/licenses/by-nc-nd/4.0/
000140830 542__ $$2Crossref$$i2019-06-07$$uhttp://doi.wiley.com/10.1002/tdm_license_1.1
000140830 588__ $$aDataset connected to CrossRef, PubMed,
000140830 650_2 $$2MeSH$$aAnimals
000140830 650_2 $$2MeSH$$aAtaxia: genetics
000140830 650_2 $$2MeSH$$aChild
000140830 650_2 $$2MeSH$$aCodon, Nonsense
000140830 650_2 $$2MeSH$$aGenetic Association Studies
000140830 650_2 $$2MeSH$$aHumans
000140830 650_2 $$2MeSH$$aIntellectual Disability: genetics
000140830 650_2 $$2MeSH$$aMale
000140830 650_2 $$2MeSH$$aMutation, Missense
000140830 650_2 $$2MeSH$$aMyoclonic Epilepsies, Progressive
000140830 650_2 $$2MeSH$$aSeizures: genetics
000140830 650_2 $$2MeSH$$aShaw Potassium Channels: genetics
000140830 650_2 $$2MeSH$$aShaw Potassium Channels: physiology
000140830 650_2 $$2MeSH$$aXenopus laevis
000140830 7001_ $$aKoko, Mahmoud$$b1
000140830 7001_ $$0P:(DE-HGF)0$$aHedrich, Ulrike B S$$b2
000140830 7001_ $$0P:(DE-2719)2811732$$aHermann, Andreas$$b3$$udzne
000140830 7001_ $$aCremer, Kirsten$$b4
000140830 7001_ $$aHaberlandt, Edda$$b5
000140830 7001_ $$aGrimmel, Mona$$b6
000140830 7001_ $$aAlhaddad, Bader$$b7
000140830 7001_ $$aBeck-Woedl, Stefanie$$b8
000140830 7001_ $$aHarrer, Merle$$b9
000140830 7001_ $$aKarall, Daniela$$b10
000140830 7001_ $$0P:(DE-2719)9000451$$aKingelhoefer, Lisa$$b11$$udzne
000140830 7001_ $$aTzschach, Andreas$$b12
000140830 7001_ $$aMatthies, Lars C$$b13
000140830 7001_ $$aStrom, Tim M$$b14
000140830 7001_ $$aRingelstein, Erich Bernd$$b15
000140830 7001_ $$aSturm, Marc$$b16
000140830 7001_ $$aEngels, Hartmut$$b17
000140830 7001_ $$aWolff, Markus$$b18
000140830 7001_ $$0P:(DE-HGF)0$$aLerche, Holger$$b19$$eCorresponding author
000140830 7001_ $$aHaack, Tobias B$$b20
000140830 77318 $$2Crossref$$3journal-article$$a10.1002/acn3.50799$$b : Wiley, 2019-06-07$$n7$$p1319-1326$$tAnnals of Clinical and Translational Neurology$$v6$$x2328-9503$$y2019
000140830 773__ $$0PERI:(DE-600)2740696-9$$a10.1002/acn3.50799$$gVol. 6, no. 7, p. 1319 - 1326$$n7$$p1319-1326$$q6:7<1319 - 1326$$tAnnals of Clinical and Translational Neurology$$v6$$x2328-9503$$y2019
000140830 8564_ $$uhttps://pub.dzne.de/record/140830/files/DZNE-2020-07152.pdf$$yOpenAccess
000140830 8564_ $$uhttps://pub.dzne.de/record/140830/files/DZNE-2020-07152.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000140830 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649617
000140830 909CO $$ooai:pub.dzne.de:140830$$popen_access$$popenaire$$pVDB$$pdriver$$pdnbdelivery
000140830 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811732$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000140830 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000451$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b11$$kDZNE
000140830 9131_ $$0G:(DE-HGF)POF3-344$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vClinical and Health Care Research$$x0
000140830 9141_ $$y2019
000140830 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bANN CLIN TRANSL NEUR : 2021$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2021-04-16T15:13:11Z
000140830 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2021-04-16T15:13:11Z
000140830 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000140830 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bANN CLIN TRANSL NEUR : 2021$$d2022-11-09
000140830 915__ $$0LIC:(DE-HGF)CCBYNCNDNV$$2V:(DE-HGF)$$aCreative Commons Attribution-NonCommercial-NoDerivs CC BY-NC-ND (No Version)$$bDOAJ
000140830 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-09
000140830 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-09
000140830 9201_ $$0I:(DE-2719)1510100$$kAG Teipel$$lClinical Dementia Research (Rostock /Greifswald)$$x0
000140830 9201_ $$0I:(DE-2719)6000013$$kDresden common$$lDresden common$$x1
000140830 980__ $$ajournal
000140830 980__ $$aVDB
000140830 980__ $$aUNRESTRICTED
000140830 980__ $$aI:(DE-2719)1510100
000140830 980__ $$aI:(DE-2719)6000013
000140830 9801_ $$aFullTexts
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ridd.2010.12.018$$o10.1016/j.ridd.2010.12.018
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0188978$$o10.1371/journal.pone.0188978
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/j.1528-1157.2000.tb00246.x$$o10.1111/j.1528-1157.2000.tb00246.x
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mrdd.10031$$o10.1002/mrdd.10031
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/gim.2015.186$$o10.1038/gim.2015.186
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/s41588-018-0143-7$$o10.1038/s41588-018-0143-7
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0140-6736(12)61480-9$$o10.1016/S0140-6736(12)61480-9
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0017811$$o10.1371/journal.pone.0017811
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0116599$$o10.1371/journal.pone.0116599
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0166-2236(00)01892-0$$o10.1016/S0166-2236(00)01892-0
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nn1533$$o10.1038/nn1533
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000000077$$o10.1212/WNL.0000000000000077
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ng.3144$$o10.1038/ng.3144
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.24929$$o10.1002/ana.24929
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.braindev.2018.01.006$$o10.1016/j.braindev.2018.01.006
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ejhg.2017.3$$o10.1038/ejhg.2017.3
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00439-018-1892-1$$o10.1007/s00439-018-1892-1
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awt095$$o10.1093/brain/awt095
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/nar/gkx1153$$o10.1093/nar/gkx1153
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ejphar.2018.06.015$$o10.1016/j.ejphar.2018.06.015
000140830 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0896-6273(00)80143-9$$o10.1016/S0896-6273(00)80143-9