Journal article

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

Lynette G Sadleir, Kristy L Kolc, Chontelle King, Heather C Mefford, Russell C Dale, Jozef Gecz, Ingrid E Scheffer

European Journal of Paediatric Neurology | ELSEVIER SCI LTD | Published : 2020


BACKGROUND: PCDH19 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. METHODS: 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 r..

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University of Melbourne Researchers


Awarded by NHGRI grant

Awarded by NHGRI

Funding Acknowledgements

We thank the children and their families for participating in our research. We thank Leanne Dibbens for genetic testing of some patients. We gratefully acknowledge support from the Health Research Council of New Zealand, Cure Kids New Zealand, the Ted and Mollie Car Endowment Trust and the National Health and Medical Research Council of Australia. We thank the Epi25 consortium for data generation for some of the patients. We thank the Epi25 principal investigators, local staff from individual cohorts, and all of the patients with epilepsy who participated in the study for making possible this global collaboration and resource to advance epilepsy genetics research. This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (Pls: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan). The Genome Sequencing Program efforts were also supported by NHGRI grant 5U01HG009088-02. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.