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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

Ware, TL, Huskins, SR, Grinton, BE, Liu, YC, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL and Berkovic, SF 2019 , 'Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania' , Epilepsia Open, vol. 4, no. 3 , pp. 504-510 , doi:

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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 cases ascertained. The etiology was structural in 5/16 cases. A genetic basis was identified in 6 of the remaining 11 cases (3 gene panel, 3 WES). In two further cases, WES identified novel variants with strong in silico data; however, paternal DNA was not available to support pathogenicity. The etiology was not determined in 3/16 (19%) cases, with a candidate gene identified in one of these. Pursuing clinical imaging and genetic testing followed by WES at an intensive research level can give a high diagnostic yield in the infantile DEEs, providing a solid base for prognostic and genetic counseling.

Item Type: Article
Authors/Creators:Ware, TL and Huskins, SR and Grinton, BE and Liu, YC and Bennett, MF and Harvey, M and McMahon, J and Andreopoulos-Malikotsinas, D and Bahlo, M and Howell, KB and Hildebrand, MS and Damiano, JA and Rosenfeld, A and Mackay, MT and Mandelstam, S and Leventer, RJ and Harvey, AS and Freeman, JL and Scheffer, IE and Jones, DL and Berkovic, SF
Keywords: developmental and epileptic encephalopathy, incidence, whole exome sequencing
Journal or Publication Title: Epilepsia Open
Publisher: Wiley-Blackwell Publishing, Inc.
ISSN: 2470-9239
DOI / ID Number:
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© 2019 The Authors. Epilepsia Open published by Wiley Periodicals Inc. on behalf of International League Against Epilepsy.This is an open access article under the terms of the Creative Commons Attribution&#8208;NonCommercial&#8208;NoDerivs License, which permits use and distribution in any medium,provided the original work is properly cited, the use is non&#8208;commercial and no modifications or adaptations are made.

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