2021
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Journal Of Inherited Metabolic Disease 2021, 44: 1001-1012. PMID: 33734437, PMCID: PMC8720508, DOI: 10.1002/jimd.12378.Peer-Reviewed Original ResearchConceptsTransferrin glycosylationProtein glycosylationPathogenic variantsN-glycansGlycosylation analysisGlycosylationVariable clinical phenotypeALG13Novel variantsPlasma glycansPhenotypeCongenital disorderIonization quadrupole timeVariantsUnderlying mechanismClinical phenotypeIntellectual disabilityNovo c.Unreported subjectsInfantile spasmsEpileptic encephalopathyClinical dataGlycansMale subjectsNeurodevelopmental course
2014
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.Peer-Reviewed Original ResearchMeSH Keywords1-Alkyl-2-acetylglycerophosphocholine EsteraseAge of OnsetBrainChild, PreschoolChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 2DNA Copy Number VariationsDNA-Binding ProteinsFaciesFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHeterogeneous-Nuclear RibonucleoproteinsHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMicrotubule-Associated ProteinsPhenotypeSpasms, InfantileConceptsInfantile spasmsEpileptic encephalopathyChinese childrenCNV lossDistinct clinical presentationsCopy number variantsPathogenicity of CNVsAutism spectrum disorderCausative genesMajority of casesWhole-exome sequencingRole of CNVsGeneralized seizuresClinical featuresClinical presentationClinical spectrumPrimary diagnosisSevere developmental disabilitiesSpasmConclusionOur findingsMBD5 geneReal-time qPCRExome sequencingGenetic factorsDifferent ethnic backgrounds
2009
IMAGING | SPECT in Epilepsy Research
Purcaro M, Blumenfeld H. IMAGING | SPECT in Epilepsy Research. 2009, 558-564. DOI: 10.1016/b978-012373961-2.00024-2.Peer-Reviewed Original ResearchEpilepsy researchUseful imaging modalityInterictal SPECT imagesSingle photon emissionIctal dystoniaExtratemporal epilepsyPresurgical localizationHypothalamic hamartomaSurgical interventionInfantile spasmsSurgical successEpileptogenic focusPostsurgical outcomesSeizure localizationNeurological disordersEpilepsyImaging modalitiesMillions of peoplePhoton emissionSPECT imagesSPECTMedicationsSpasmDystoniaHamartoma
1999
Newly Diagnosed Epilepsy in Children: Presentation at Diagnosis
Berg A, Shinnar S, Levy S, Testa F. Newly Diagnosed Epilepsy in Children: Presentation at Diagnosis. Epilepsia 1999, 40: 445-452. PMID: 10219270, DOI: 10.1111/j.1528-1157.1999.tb00739.x.Peer-Reviewed Original ResearchConceptsEpilepsy syndromesFirst seizureAdolescent-onset epilepsyCurrent classification guidelinesRemote symptomatic etiologyTime of diagnosisChildhood-onset epilepsyCommunity-based cohortBenign rolandic epilepsyRelevant medical recordsSymptomatic etiologyAdult neurologistsMedian agePediatric neurologistsPrognostic valueInfantile spasmsGeneralized syndromeMedical recordsChildhood absenceCommon syndromeChild neurologistsClassification of seizuresRolandic epilepsyEpilepsySyndrome
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