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    International consensus recommendations on the diagnostic work-up for malformations of cortical development

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    Author
    Oegema, R; Barakat, TS; Wilke, M; Stouffs, K; Amrom, D; Aronica, E; Bahi-Buisson, N; Conti, V; Fry, AE; Geis, T; ...
    Date
    2020-09-07
    Source Title
    Nature Reviews Neurology
    Publisher
    NATURE RESEARCH
    University of Melbourne Author/s
    Leventer, Richard
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Oegema, R., Barakat, T. S., Wilke, M., Stouffs, K., Amrom, D., Aronica, E., Bahi-Buisson, N., Conti, V., Fry, A. E., Geis, T., Gomez Andres, D., Parrini, E., Pogledic, I., Said, E., Soler, D., Valor, L. M., Zaki, M. S., Mirzaa, G., Dobyns, W. B. ,... Di Donato, N. (2020). International consensus recommendations on the diagnostic work-up for malformations of cortical development. NATURE REVIEWS NEUROLOGY, 16 (11), pp.618-635. https://doi.org/10.1038/s41582-020-0395-6.
    Access Status
    Access this item via the Open Access location
    URI
    http://hdl.handle.net/11343/254119
    DOI
    10.1038/s41582-020-0395-6
    Open Access URL
    https://repub.eur.nl/pub/130198/Repub_130198_O-A.pdf
    Abstract
    Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.

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