University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Medicine and Radiology
  • Medicine and Radiology - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Medicine and Radiology
  • Medicine and Radiology - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    Epileptic spasms are a feature of DEPDC5 mTORopathy

    Thumbnail
    Download
    Published version (527.7Kb)

    Citations
    Scopus
    Altmetric
    35
    Author
    Carvill, GL; Crompton, DE; Regan, BM; McMahon, JM; Saykally, J; Zemel, M; Schneider, AL; Dibbens, L; Howell, KB; Mandelstam, S; ...
    Date
    2015-08-01
    Source Title
    Neurology Genetics
    Publisher
    LIPPINCOTT WILLIAMS & WILKINS
    University of Melbourne Author/s
    Harvey, Anthony; Leventer, Richard; Regan, Brigid; Mullen, Saul; Mandelstam, Simone; Berkovic, Samuel; MCMAHON, JACINTA; Schneider, Amy; Scheffer, Ingrid; Crompton, Douglas; ...
    Affiliation
    Medicine and Radiology
    Medical Education
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., Leventer, R. J., Harvey, A. S., Mullen, S. A., Berkovic, S. F., Sullivan, J., Scheffer, I. E. & Mefford, H. C. (2015). Epileptic spasms are a feature of DEPDC5 mTORopathy. NEUROLOGY-GENETICS, 1 (2), https://doi.org/10.1212/NXG.0000000000000016.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/258994
    DOI
    10.1212/NXG.0000000000000016
    Abstract
    OBJECTIVE: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. METHODS: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. RESULTS: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable. CONCLUSIONS: While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, we highlight the relevance of inherited mutations in the setting of a family history of focal epilepsies. We also illustrate the utility of clinical diagnostic testing and detailed phenotypic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alterations. We expand this phenotypic spectrum to include epileptic spasms, aligning DEPDC5 epilepsies more with the recognized features of other mTORopathies.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [52369]
    • Paediatrics (RCH) - Research Publications [2382]
    • Medical Education - Research Publications [594]
    • Medicine and Radiology - Research Publications [3309]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors