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Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology

Catarino, Claudia B., Liu, Joan Y. W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria and Sisodiya, Sanjay M. 2011, Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology, Brain, vol. 134, no. 10, pp. 2982-3010, doi: 10.1093/brain/awr129.

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Title Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology
Author(s) Catarino, Claudia B.
Liu, Joan Y. W.
Liagkouras, Ioannis
Gibbons, Vaneesha S.
Labrum, Robyn W.
Ellis, Rachael
Woodward, Cathy
Davis, Mary B.
Smith, Shelagh J.
Cross, J. Helen
Appleton, Richard E.
Yendle, Simone C.
McMahon, Jacinta M.
Bellows, Susannah T.
Jacques, Thomas S.
Zuberi, Sameer M.
Koepp, Matthias J.
Martinian, Lillian
Scheffer, Ingrid E.
Thom, Maria
Sisodiya, Sanjay M.
Journal name Brain
Volume number 134
Issue number 10
Start page 2982
End page 3010
Total pages 29
Publisher Oxford University Press
Place of publication Oxford, Eng.
Publication date 2011-10-01
ISSN 0006-8950
1460-2156
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences
Neurosciences & Neurology
SCN1A
Na(+) channel
epilepsy
neuropathology
encephalopathy
SEVERE MYOCLONIC EPILEPSY
FEBRILE SEIZURES PLUS
DE-NOVO MUTATIONS
TEMPORAL-LOBE EPILEPSY
REDUCED SODIUM CURRENT
CHANNEL GENE SCN1A
HIPPOCAMPAL SCLEROSIS
GENERALIZED EPILEPSY
MOUSE MODEL
INFANTILE SPASMS
Summary Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome. For all patients, we reviewed the clinical history, seizure types and frequency, antiepileptic drugs, cognitive, social and functional outcome and results of investigations. A systematic neuropathology study was performed, with post-mortem material from three adult cases with Dravet syndrome, in comparison with controls and a range of relevant paediatric tissue. Twenty-two adults with Dravet syndrome, 10 female, were included, median age 39 years (range 20-66). SCN1A structural variation was found in 60 of the adult Dravet patients tested, including one post-mortem case with DNA extracted from brain tissue. Novel mutations were described for 11 adult patients; one patient had three SCN1A mutations. Features of Dravet syndrome in adulthood include multiple seizure types despite polytherapy, and age-dependent evolution in seizure semiology and electroencephalographic pattern. Fever sensitivity persisted through adulthood in 11 cases. Neurological decline occurred in adulthood with cognitive and motor deterioration. Dysphagia may develop in or after the fourth decade of life, leading to significant morbidity, or death. The correct diagnosis at an older age made an impact at several levels. Treatment changes improved seizure control even after years of drug resistance in all three cases with sufficient follow-up after drug changes were instituted; better control led to significant improvement in cognitive performance and quality of life in adulthood in two cases. There was no histopathological hallmark feature of Dravet syndrome in this series. Strikingly, there was remarkable preservation of neurons and interneurons in the neocortex and hippocampi of Dravet adult post-mortem cases. Our study provides evidence that Dravet syndrome is at least in part an epileptic encephalopathy. © 2011 The Author.
Language eng
DOI 10.1093/brain/awr129
Field of Research 11 Medical And Health Sciences
17 Psychology And Cognitive Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2011, The Authors
Free to Read? Yes
Use Rights Creative Commons Attribution non-commercial licence
Persistent URL http://hdl.handle.net/10536/DRO/DU:30110655

Document type: Journal Article
Collections: School of Psychology
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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.