The neurobehavioral and molecular phenotype of Angelman Syndrome
Wink L, Fitzpatrick S, Shaffer R, Melnyk S, Begtrup A, Fox E, Schaefer T, Mathieu-Frasier L, Ray B, Lahiri D, Horn P, Erickson C. The neurobehavioral and molecular phenotype of Angelman Syndrome. American Journal Of Medical Genetics Part A 2015, 167: 2623-2628. PMID: 26219744, DOI: 10.1002/ajmg.a.37254.Peer-Reviewed Original ResearchMeSH KeywordsAngelman SyndromeBehaviorBrainBrain-Derived Neurotrophic FactorCase-Control StudiesChild, PreschoolHumansInfantPhenotypeConceptsPlasma levelsAngelman syndromeBrain-derived neurotrophic factor (BDNF) plasma levelsDevelopmental delayNeurotrophic factor plasma levelsBDNF plasma levelsDetailed medical historyAge 3 yearsRare neurodevelopmental disorderLarger future studiesAbnormal neuronal developmentBDNF levelsSignificant developmental delayNeuropsychiatric presentationUnique behavioral profileGait ataxiaMedical historySleep disruptionMajority of individualsPlasma samplingAutism Diagnostic Observation ScheduleNeuronal developmentNeurodevelopmental disordersNeurobehavioral phenotypesHyperactivity/impulsivity