Oegema, Renske and Barakat, Tahsin Stefan and Wilke, Martina and Stouffs, Katrien and Amrom, Dina and Aronica, Eleonora and Bahi-Buisson, Nadia and Conti, Valerio and Fry, Andrew E. and Geis, Tobias and Gomez Andres, David and Parrini, Elena and Pogledic, Ivana and Said, Edith and Soler, Doriette and Valor, Luis M. and Zaki, Maha S. and Mirzaa, Ghayda and Dobyns, William B. and Reiner, Orly and Guerrini, Renzo and Pilz, Daniela T. and Hehr, Ute and Leventer, Richard J. and Jansen, Anna C. and Mancini, Grazia M. S. and Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. NATURE REVIEWS NEUROLOGY, 16 (11). pp. 618-635. ISSN 1759-4758, 1759-4766
Full text not available from this repository. (Request a copy)Abstract
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. In this Consensus Statement, the international MCD network Neuro-MIG provides recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs. 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PERIVENTRICULAR NODULAR HETEROTOPIA; ZIKA VIRUS-INFECTION; SOMATIC MUTATIONS; BRAIN MALFORMATIONS; MTOR PATHWAY; SUBCORTICAL HETEROTOPIA; IMAGING HETEROGENEITY; EPILEPSY SURGERY; TASK-FORCE; SPECTRUM; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Frauenheilkunde und Geburtshilfe (Schwerpunkt Geburtshilfe) Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Mar 2021 06:23 |
| Last Modified: | 15 Mar 2021 06:23 |
| URI: | https://pred.uni-regensburg.de/id/eprint/43848 |
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