15668422Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CANeurologyBrain; Contractile Proteins; Ehlers-Danlos Syndrome; Microfilament Proteins; Point Mutation; Sequence DeletionAdolescent; Adult; Amino Acid Substitution; Child; Chromosomes, Human, X; DNA Mutational Analysis; Epilepsy; Exons; Female; Filamins; Humans; Infant; Magnetic Resonance Imaging; Male; Microsatellite Repeats; Middle Aged; Mutation, Missense; Pedigree; Phenotype; Polymorphism, Single-Stranded ConformationalFilamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.Neurology2005-01-25T00:00:002005Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.Faculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns: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:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD019943PhysiologyProcedures19260.991932Amino Acid SubstitutionD018895Chemicals & Drugs7190.990587Microsatellite RepeatsD004535Disorders570.99231Ehlers-Danlos SyndromeD018807Phenomena450.999593Polymorphism, Single-Stranded ConformationalD003285Chemicals & Drugs460.998274Contractile ProteinsD000293Living Beings36422750.634811AdolescentD008840Chemicals & Drugs16220.988686Microfilament ProteinsElizabethBerry-KravisElizabeth Berry-Kravis349548Berry-Kravis, ElizabethProfessorD064448Chemicals & Drugs330.999767Filamins4ProfessorD004827Disorders291040.896604EpilepsyD017354Physiology23300.981851Point MutationD008875Concepts & IdeasLiving Beings48498180.3737Middle AgedD010641Physiology1273550.897312PhenotypeD020125Physiology15220.987333Mutation, MissenseD005091Chemicals & Drugs20340.994357ExonsD000328Living Beings51785940.393502AdultD017384Disorders9120.990302Sequence DeletionD008297Physiology565156330.299056MaleD005260Physiology580162050.293542FemaleD004252Procedures30560.985129DNA Mutational AnalysisNeurological SciencesRush University, Rush Medical CollegeD041321Anatomy590.992898Chromosomes, Human, Xtrue1ProfessorProfessorD002648Living Beings27613450.722209ChildD006801Living Beings644293510.211905HumansD010375Concepts & Ideas37770.986653PedigreeAuthorship 29794190.06618660.06618661authors10.2526has subject areaD001921Anatomy14916890.492745BrainD007223Living Beings1505310.863699InfantD008279Concepts & IdeasProcedures19112220.661995Magnetic Resonance Imaging