33242881Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne CBrain : a journal of neurologyMovement Disorders; Neurodevelopmental Disorders; Small-Conductance Calcium-Activated Potassium ChannelsAdolescent; Adult; Cerebellar Ataxia; Child; Child, Preschool; Electrophysiological Phenomena; Exome; Frameshift Mutation; Genetic Variation; Haploinsufficiency; Humans; Intellectual Disability; Learning Disabilities; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Patch-Clamp Techniques; White Matter; Young AdultVariants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.Brain2020-12-01T00:00:002020Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000293Living Beings111389680.40057AdolescentD000328Living Beings1578255770.254454AdultD002648Living Beings93969130.440068ChildD002524Disorders11200.974743Cerebellar AtaxiaD002675Living Beings65236080.594978Child, PreschoolD009069Disorders32440.961435Movement DisordersD008607Disorders651850.890696Intellectual DisabilityD008875Concepts & IdeasLiving Beings1473249570.258834Middle AgedD006801Living Beings2262862810.130064HumansD014644Phenomena29413490.59631Genetic VariationD008297Physiology1931408600.201635MaleAuthorship 142231340.7942280.7942281authors10.2522has subject areaD018408Procedures1073960.897896Patch-Clamp TechniquesD020125Physiology1342760.870272Mutation, MissenseD059472Genes & Molecular Sequences621270.928729ExomeD016368Physiology34510.982783Frameshift MutationD055724Physiology39490.961955Electrophysiological PhenomenaD057895Concepts & IdeasDisorders39620.944362HaploinsufficiencyD06588621360.962076Neurodevelopmental DisordersD066127Anatomy47800.908927White Matterhttps://dnatesting.uchicago.edu/Genetic Services Laboratory D008279Concepts & IdeasProcedures53033470.417716Magnetic Resonance Imaginghttps://genes.uchicago.edu/people/our-facultyDepartment of Human Genetics D051640Chemicals & Drugs6140.983012Small-Conductance Calcium-Activated Potassium ChannelsD055815Living Beings97159610.42324Young AdultHuman GeneticsUniversity of ChicagoDanielaDel GaudioDaniela Del Gaudio41.78927490000000-87.601250000000001768Del Gaudio, DanielaProfessortrue1ProfessorProfessor