Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry, Elisabeth Wraige, Pradeep C Vasudevan, Meena Balasubramanian, Ingrid E Scheffer
EPILEPSY RESEARCH | ELSEVIER SCIENCE BV | Published : 2018
Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features. Seizures are reported in approximately a third of cases; however, the epileptology has not been thoroughly studied. We identified three patients with pathogenic ASXL3 variants and seizures at Austin Health and in the DECIPHER database. These three patients had novel de novo ASXL3 pathogenic variants, two with truncation variants and one with a splice site variant. All three had child..View full abstract
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Awarded by NHMRC
We thank the patients and their families for their participation in this research. This study was supported by funding from the NHMRC (1091593, 1104831). Dr. Myers receives funding support from Citizens United for Research in Epilepsy. Funding for the DECIPHER project was provided by the Wellcome Trust.