Citation for final published version:Thomas, Rhys 2017. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Please note: Changes made as a result of publishing processes such as copy-editing, formatting and page numbers may not be reflected in this version. For the definitive version of this publication, please refer to the published source. You are advised to consult the publisher's version if you wish to cite this paper.This version is being made available in accordance with publisher policies. See http://orca.cf.ac.uk/policies.html for usage policies. Copyright and moral rights for publications made available in ORCA are retained by the copyright holders.

In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. The authors regret the error.

Infantile spasms (IS) and Lennox Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early-onset, intractable seizures and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies in similar cohorts and highlight novel candidate genes for IS and LGS.

Abstract:Objective:To determine whether there is a disparity in access to telemedical care that may be a function of socioeconomic status, language, or other demographic factors during the peak of the COVID-19 pandemic at a highly impacted urban center (Montefiore Medical Center) in Bronx, NY.Methods:We retrospectively investigated potential patient characteristics that might be associated with an increased likelihood of receiving a telephone visit as opposed to a televideo visit for patients followed in the pediatric neurology, adult epilepsy and general neurology practices at Montefiore Medical Center during the 30-day period starting April 2, 2020, at the peak of COVID-19 pandemic in New York.Results:We found that patients who had telephone encounters, as opposed to televideo encounters, were overall older, less likely to have commercial insurance, and more likely to have Medicaid. Among pediatric patients, a preferred language other than English was also associated with a higher proportion of telephone encounters. New patients in both the adult and pediatric groups were more likely to have televideo visits.Conclusions:Our findings identify demographic factors, including age, insurance type, and language preference, which may play a role in access to televideo encounters among neurology patients in an urban center during the COVID-19 pandemic. We suggest several potential practice, institution, and community-based interventions which might further expand access to televideo care for neurology patients.

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