Journal article

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

PLOS ONE | PUBLIC LIBRARY SCIENCE | Published : 2018

Abstract

BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC. We then screened a cohort of 208 patients with two specific SFEC syndromes, childhood epilepsy with centrotemporal..

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Grants

Awarded by Australian National Health and Medical Research Council Program Grant (NHMRC)


Awarded by Citizens United for Research in Epilepsy (CURE)


Funding Acknowledgements

This research was supported by a grant from Supporting Families with Koolen-de Vries syndrome (https://supportingkdvs.org/). Additional support came from an Australian National Health and Medical Research Council Program Grant (NHMRC; https://www.nhmrc.gov.au/; grant number 628952). Dr. Myers also holds a Taking Flight Award from Citizens United for Research in Epilepsy (CURE; http://www.cureepilepsy.org/; grant number 439534). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.We thank the patients and their families for contributing to this research. This research was supported by a grant from Supporting Families with Koolen-de Vries syndrome (https://supportingkdvs.org/). Additional support came from an Australian National Health and Medical Research Council Program Grant (NHMRC; https://www.nhmrc.gov.au/; grant number 628952). Dr. Myers also holds a Taking Flight Award from Citizens United for Research in Epilepsy (CURE; http://www.cureepilepsy.org/;grant number 439534). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.