Journal article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones Show all
EPILEPSIA OPEN | WILEY | Published : 2019
DOI: 10.1002/epi4.12350
Abstract
We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania between 2011 and 2016, with seizure onset <2 years of age, epileptiform EEG, frequent seizures, and developmental impairment, were included. Following review of EEG databases, medical records, brain MRIs, and other investigations, clinical genetic testing was undertaken with subsequent research interrogation of whole exome sequencing (WES) in unsolved cases. The incidence of infantile DEEs was 0.44/1000 per year (95% confidence interval 0.25 to 0.71), with 16 c..
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Grants
Awarded by National Health and Medical Research Council (NHMRC) Program
Awarded by NHMRC
Funding Acknowledgements
The Epilepsy Society Tasmania and the Estate of Kathleen Beulah Grace; National Health and Medical Research Council (NHMRC) Program, Grant/Award Number: 1091593; NHMRC Fellowship, Grant/Award Number: 1104831 and 1102971; NHMRC Program, Grant/Award Number: 1054618