A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand; Candace T Myers; Gemma L Carvill; Brigid M Regan; John A Damiano; Saul A Mullen; Mark R Newton; Umesh Nair; Elena V Gazina; Carol J Milligan; Christopher A Reid; Steven Petrou; Ingrid E Scheffer; Samuel F Berkovic; Heather C Mefford

Journal article

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

DOI: 10.1212/WNL.0000000000002608

Abstract

OBJECTIVES: We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of the epilepsies. METHODS: The targeted resequencing gene panel was designed using molecular inversion probe (MIP) capture technology and sequenced using massively parallel Illumina sequencing. RESULTS: We demonstrated proof of principle that mutations can be detected in 4 previously genotyped focal epilepsy cases. We searched for both germline and somatic mutations in 251 patients with unsolved sporadic or familial focal epilepsy and identified 11 novel or very rare missense variants in 5 different genes: CHRNA4, GRIN2B, KCNT1, PCDH19, and SCN1A. Of these, 2 were ..

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University of Melbourne Researchers

Steven Petrou Author Florey Department of Neuroscience and Mental Health

Mark Newton Author Medical Education

Saul Mullen Author Medical Education

Ingrid Scheffer Author Medicine - Austin Health

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Grants

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Awarded by NIH NINDS

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

M. Hildebrand is funded by a National Health and Medical Research Council (NHMRC) Project Grant (1079058) and Career Development Fellowship (1063799). C. Myers reports no disclosures relevant to the manuscript. G. Carvill is a member of the scientific advisory board of Ambry Genetics. B. Regan, J. Damiano, S. Mullen, M. Newton, U. Nair, E. Gazina, C. Milligan, and C. Reid report no disclosures relevant to the manuscript. S. Petrou is funded by an NHMRC Program Grant (628952). I. Scheffer discloses payments from UCB Pharma, Athena Diagnostics, and Transgenomics for lectures and educational presentations and is funded by an NHMRC Program Grant (628952) and Practitioner Fellowship (1006110). S. Berkovic discloses payments from UCB Pharma, Novartis Pharmaceuticals, Sanofi-Aventis, and Jansen Cilag for lectures and educational presentations and a patent for SCN1A testing held by Bionomics Inc. and licensed to various diagnostic companies. He is funded by an NHMRC Program Grant (628952). H. Mefford is a member of the scientific advisory board of SPARK: Simons Foundation Powering Autism Research for Knowledge and is funded by NIH NINDS (2R01NS069605) Grant. Go to Neurology.org for full disclosures.