Openly accessible

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Feng, Y. C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Singh, T., Heyne, H., Byrnes, A., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Heinzen, E. L., Dhindsa, R. S., Stanley, K. E., Cavalleri, G. L., Hakonarson, H., Helbig, I., Krause, R., May, P., Bellows, S. and Epi25 Collaborative 2019, Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals, American journal of human genetics, vol. 105, no. 2, pp. 267-282, doi: 10.1016/j.ajhg.2019.05.020.

Attached Files
Name Description MIMEType Size Downloads

Title Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Author(s) Feng, Y. C. A.
Howrigan, D. P.
Abbott, L. E.
Tashman, K.
Cerrato, F.
Singh, T.
Heyne, H.
Byrnes, A.
Churchhouse, C.
Watts, N.
Solomonson, M.
Lal, D.
Heinzen, E. L.
Dhindsa, R. S.
Stanley, K. E.
Cavalleri, G. L.
Hakonarson, H.
Helbig, I.
Krause, R.
May, P.
Bellows, S.
Epi25 Collaborative
Journal name American journal of human genetics
Volume number 105
Issue number 2
Start page 267
End page 282
Total pages 16
Publisher Cell Press
Place of publication Cambridge, Ma.
Publication date 2019-08
ISSN 0002-9297
1537-6605
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
DE-NOVO MUTATIONS
EPILEPTIC SEIZURES
COMMON EPILEPSIES
VARIANTS
PROTEIN
METAANALYSIS
GENOME
GAMMA-2-SUBUNIT
SUSCEPTIBILITY
EPIDEMIOLOGY
burden analysis
epilepsy
epileptic encephalopathy
exome
seizures
sequencing
Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au
Epi25 Collaborative
Language eng
DOI 10.1016/j.ajhg.2019.05.020
Indigenous content off
Field of Research 06 Biological Sciences
11 Medical and Health Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30132138

Document type: Journal Article
Collections: Faculty of Health
School of Psychology
Open Access Collection
Connect to link resolver
 
Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved.

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.

Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 6 times in TR Web of Science
Scopus Citation Count Cited 13 times in Scopus
Google Scholar Search Google Scholar
Access Statistics: 47 Abstract Views, 0 File Downloads  -  Detailed Statistics
Created: Wed, 20 Nov 2019, 13:53:35 EST

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.