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
2013
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy. Neuron 2013, 80: 429-441. PMID: 24139043, PMCID: PMC3820368, DOI: 10.1016/j.neuron.2013.08.013.Peer-Reviewed Original ResearchConceptsCongenital microcephalyProgressive cerebral atrophyStructural brain abnormalitiesCerebral atrophyNeuronal damageEnhanced excitabilityIntractable seizuresAsparagine depletionNeurological impairmentBrain abnormalitiesCortical thicknessLoss of functionASNS deficiencyProgressive formMutant micePatient phenotypesIntellectual disabilityASNS geneMicrocephalyMissense mutationsBrainDeficiencyAspartate/MutationsRecessive mutations
2009
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end