Late diagnoses of Dravet syndrome: How many individuals are we missing?
Late diagnoses of Dravet syndrome: How many individuals are we missing?
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Genomics England Research Consortium , Silvennoinen, Katri , Puvirajasinghe, Clinda , Hudgell, Kirsty , Sidhu, Meneka K. , Martins Custodio, Helena , Jones, Wendy D. , Balestrini, Simona , Sisodiya, Sanjay M. , Ambrose, J. C. , Arumugam, P. , Baple, E. L. , Bleda, M. , Boardman‐Pretty, F. , Boissiere, J. M. , Boustred, C. R. , Caulfield, M. J. , Chan, G. C. , Craig, C. E. H. , Daugherty, L. C. , de Burca, A. , Devereau, A. , Elgar, G. , Foulger, R. E. , Fowler, T. , Furió‐Tarí, P. , Hackett, J. M. , Halai, D. , Hamblin, A. , Henderson, S. , Holman, J. E. , Hubbard, T. J. P. , Ibáñez, K. , Jackson, R. , Jones, L. J. , Kasperaviciute, D. , Kayikci, M. , Lahnstein, L. , Lawson, K. , Leigh, S. E. A. , Leong, I. U. S. , Lopez, F. J. , Maleady‐Crowe, F. , Mason, J. , McDonagh, E. M. , Moutsianas, L. , Mueller, M. , Murugaesu, N. , Need, A. C. , Odhams, C. A. , Patch, C. , Perez‐Gil, D. , Polychronopoulos, D. , Pullinger, J. , Rahim, T. , Rendon, A. , Riesgo‐Ferreiro, P. , Rogers, T. , Ryten, M. , Savage, K. , Sawant, K. , Scott, R. H. , Siddiq, A. , Sieghart, A. , Smedley, D. , Smith, K. R. , Sosinsky, A. , Spooner, W. , Stevens, H. E. , Stuckey, A. , Sultana, R. , Thomas, E. R. A. , Thompson, S. R. , Tucci, A. , Walsh, E. , Watters, S. A. , Welland, M. J. , Williams, E. and Witkowska, K.
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Scope and Contents
Contents
We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow‐up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent whole‐genome sequencing through the 100 000 Genomes Project. Virtual gene panels were applied to frequenc...
Alternative Titles
Full title
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Authors, Artists and Contributors
Author / Creator
Silvennoinen, Katri
Puvirajasinghe, Clinda
Hudgell, Kirsty
Sidhu, Meneka K.
Martins Custodio, Helena
Jones, Wendy D.
Balestrini, Simona
Sisodiya, Sanjay M.
Ambrose, J. C.
Arumugam, P.
Baple, E. L.
Bleda, M.
Boardman‐Pretty, F.
Boissiere, J. M.
Boustred, C. R.
Caulfield, M. J.
Chan, G. C.
Craig, C. E. H.
Daugherty, L. C.
de Burca, A.
Devereau, A.
Elgar, G.
Foulger, R. E.
Fowler, T.
Furió‐Tarí, P.
Hackett, J. M.
Halai, D.
Hamblin, A.
Henderson, S.
Holman, J. E.
Hubbard, T. J. P.
Ibáñez, K.
Jackson, R.
Jones, L. J.
Kasperaviciute, D.
Kayikci, M.
Lahnstein, L.
Lawson, K.
Leigh, S. E. A.
Leong, I. U. S.
Lopez, F. J.
Maleady‐Crowe, F.
Mason, J.
McDonagh, E. M.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A. C.
Odhams, C. A.
Patch, C.
Perez‐Gil, D.
Polychronopoulos, D.
Pullinger, J.
Rahim, T.
Rendon, A.
Riesgo‐Ferreiro, P.
Rogers, T.
Ryten, M.
Savage, K.
Sawant, K.
Scott, R. H.
Siddiq, A.
Sieghart, A.
Smedley, D.
Smith, K. R.
Sosinsky, A.
Spooner, W.
Stevens, H. E.
Stuckey, A.
Sultana, R.
Thomas, E. R. A.
Thompson, S. R.
Tucci, A.
Walsh, E.
Watters, S. A.
Welland, M. J.
Williams, E.
Witkowska, K.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3eb93497700946c19517fb07bc3808c4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3eb93497700946c19517fb07bc3808c4
Other Identifiers
ISSN
2470-9239
E-ISSN
2470-9239
DOI
10.1002/epi4.12525
