2020
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation
Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. Pediatrics 2020, 145: e20191490. PMID: 32015180, PMCID: PMC7802010, DOI: 10.1542/peds.2019-1490.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAggressionAntipsychotic AgentsAnxietyAutism Spectrum DisorderCatatoniaChildCompulsive BehaviorCryingDevelopmental DisabilitiesFemaleFrameshift MutationHallucinationsHumansImmunoglobulins, IntravenousImmunosuppressive AgentsImmunotherapyIrritable MoodMethylprednisoloneMutismNerve Tissue ProteinsNeuroprotective AgentsObsessive-Compulsive DisorderRecurrenceSelf CareSleep Initiation and Maintenance DisordersStereotyped BehaviorSyndromeUrinary IncontinenceUrinary RetentionConceptsClinical observationsChronic relapsing coursePeriod of treatmentYears of ageImmunomodulatory treatmentUrinary retentionRelapsing courseNeurologic regressionCase seriesAntipsychotic medicationNeuropsychiatric syndromeMood disordersImmune functionObsessive-compulsive behaviorRare monogenic disordersNeurobehavioral syndromeTranslational investigationsPremorbid levelSHANK3 mutationsPatientsHormonal stimuliMonogenic disordersResponsive phenotypeDevelopmental disabilitiesSyndrome
2018
PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior
Wang Y, Zeng C, Li J, Zhou Z, Ju X, Xia S, Li Y, Liu A, Teng H, Zhang K, Shi L, Bi C, Xie W, He X, Jia Z, Jiang Y, Cai T, Wu J, Xia K, Sun Z. PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior. Cell Reports 2018, 24: 2029-2041. PMID: 30134165, DOI: 10.1016/j.celrep.2018.07.061.Peer-Reviewed Original Research