2017
Semicircular canal dehiscence among idiopathic intracranial hypertension patients
Kuo P, Bagwell KA, Mongelluzzo G, Schutt CA, Malhotra A, Khokhar B, Kveton JF. Semicircular canal dehiscence among idiopathic intracranial hypertension patients. The Laryngoscope 2017, 128: 1196-1199. PMID: 28833207, DOI: 10.1002/lary.26795.Peer-Reviewed Original ResearchConceptsRadiographic superior semicircular canal dehiscenceSuperior semicircular canal dehiscenceIdiopathic intracranial hypertensionSemicircular canal dehiscenceOpening pressureCanal dehiscenceIdiopathic intracranial hypertension patientsLogistic regressionIntracranial hypertension patientsBody mass indexRetrospective pilot studyMultivariate logistic regressionComputed tomography (CT) imagingStudent's t-testAverage opening pressureRetrospective cohortConsecutive patientsIntracranial hypertensionHypertension patientsMass indexRetrospective studyLumbar punctureControl cohortTegmental defectsPatients
2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale Journal Of Biology And Medicine 2013, 86: 101-6. PMID: 23483815, PMCID: PMC3584487.Peer-Reviewed Original ResearchMeSH KeywordsBiopsyChild, PreschoolChloride ChannelsElectromyographyHumansMaleMiddle AgedMutationMyotonia CongenitaConceptsMyotonia congenitaClinical presentationPatient 1Salient clinical featuresCLCN1 geneSarcolemmal chloride conductanceClinical featuresPatient 2Muscle relaxationMuscle biopsyElectrical myotoniaGenetic testingCLCN1 mutationsCongenitaCommon typeNovel mutationsPatientsChloride conductanceRecessive formUnidentified mutationsMyotoniaGene sequencingPresentationMutationsBiopsy