2020
Human CRY1 variants associate with attention deficit/hyperactivity disorder
Onat OE, Kars ME, Gül Ş, Bilguvar K, Wu Y, Özhan A, Aydın C, Başak AN, Trusso MA, Goracci A, Fallerini C, Renieri A, Casanova JL, Itan Y, Atbaşoğlu CE, Saka MC, Kavaklı İ, Özçelik T. Human CRY1 variants associate with attention deficit/hyperactivity disorder. Journal Of Clinical Investigation 2020, 130: 3885-3900. PMID: 32538895, PMCID: PMC7324179, DOI: 10.1172/jci135500.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderDeficit/hyperactivity disorderHyperactivity disorderMajor depressive disorderSleep phase disorderGenotype-phenotype correlation analysisAdult EuropeansDepressive disorderIndependent cohortTherapeutic markersFunctional alterationsBehavioral symptomsInsomniaExome sequencingPhenome-wide association studyDisordersPhase disorderPatientsPsychiatric phenotypesMechanistic linkAffected familyArrhythmic phenotypeMolecular rhythmsPhenotypeAnxiety
2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Yoo Y, Jung J, Lee Y, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park S, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee S, So I, Lim BC, Choi H, Seong JY, Shin YB, Jung H, Chae J, Choi M. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Annals Of Neurology 2017, 82: 466-478. PMID: 28856709, DOI: 10.1002/ana.25032.Peer-Reviewed Original ResearchConceptsRett syndromeGenetic factorsAppropriate medical interventionΓ-aminobutyric acid signalingDistinct diagnostic criteriaDevastating neurodevelopmental disorderWhole-exome sequencingAnn NeurolClinical featuresEE patientsEpileptic encephalopathyDe novo variantsNovel genetic factorsDiagnostic criteriaAnimal modelsMedical interventionsAccurate diagnosisReceptor activityReceptor functionSpecific molecular mechanismsPatientsRTT-like patientsNeurodevelopmental disordersNovo variantsMECP2 mutations