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dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorKolc, Kristy L-
dc.contributor.authorKing, Chontelle-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorDale, Russell C-
dc.contributor.authorGecz, Jozef-
dc.contributor.authorScheffer, Ingrid E-
dc.identifier.citationEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; 24: 142-147-
dc.description.abstractPCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-person patient interview and review of clinical records for cohort A, and by patient report for cohort B. Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months; while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.-
dc.subjectAnti-epileptic drug-
dc.subjectDevelopmental and epileptic encephalopathy-
dc.titleLevetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.-
dc.typeJournal Article-
dc.identifier.journaltitleEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USAen
dc.identifier.affiliationThe Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australiaen
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealanden
dc.identifier.affiliationAdelaide Medical School, The University of Adelaide, SA, Australiaen
dc.identifier.affiliationRobinson Research Institute, The University of Adelaide, SA, Australiaen
dc.identifier.affiliationHealthy Mothers and Babies, South Australian Health and Medical Research Institute, SA, Australiaen
dc.identifier.affiliationKids Neuroscience Centre. Children's Hospital at Westmead, University of Sydney, Australiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, Royal Children's Hospital, The University of Melbourne, VIC, Australiaen
dc.type.austinJournal Article-
dc.type.austinReview-, Ingrid E
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.openairecristype Research Centre-
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