Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.
Lakhani SA, Pierce R. Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective. Current Opinion In Pediatrics 2019, 31: 317-321. PMID: 31090571, DOI: 10.1097/mop.0000000000000754.Peer-Reviewed Original ResearchConceptsPediatric intensivistsIll childrenCritical care pediatriciansFirst clinical diagnosisTypes of patientsWhole-exome sequencingSevere congenital diseaseUnderlying genetic causePatient's conditionIllness perspectiveUndiagnosed diseasePatientsDescriptive diagnosisClinical diagnosisCongenital diseaseGenetic testingGenetic abnormalitiesDiagnosisExome sequencingGenetic causeNext-generation sequencingClinical geneticistsIntensivistsGenetic diagnosisDiseaseDe novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations