2020
Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review
Kishnani S, Riley K, Mikati M, Jiang Y. Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal Of Pediatric Neurology 2020, 19: 193-201. DOI: 10.1055/s-0040-1714070.Peer-Reviewed Original Research
2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Mulkey SB, Ben‐Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang Y, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H. Epilepsia 2017, 58: 436-445. PMID: 28139826, PMCID: PMC5339037, DOI: 10.1111/epi.13676.Peer-Reviewed Original ResearchConceptsNonepileptic myoclonusClinical presentationFunction variantsMultifocal epileptiform dischargesProminent clinical featureDistinct clinical presentationsProfound developmental delayBurst-suppression patternInstitutional review boardNeonatal encephalopathyClinical featuresEpileptic spasmsNeonatal periodNeonatal seizuresRespiratory dysfunctionPatient RegistryMedical recordsNeonatal presentationElectrophysiologic propertiesEpileptiform dischargesParoxysmal movementsTherapeutic approachesPatientsBrain volumeMyoclonus
2015
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Molecular Case Studies 2015, 2: a000661. PMID: 27148580, PMCID: PMC4849844, DOI: 10.1101/mcs.a000661.Peer-Reviewed Original ResearchDysmorphic facial featuresZinc finger proteinGlobal developmental delayDevelopmental delayIntellectual disabilityFinger proteinSignificant global developmental delayMicrotubule attachmentChromosome alignmentCell divisionDe novo mutationsDe novo pathogenic variantsNovo pathogenic variantsCHAMP1Phosphoprotein 1De novoNovo mutationsUnrelated individualsFunction variantsPathogenic variantsBrain developmentMutations