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International consensus recommendations on the diagnostic work-up for malformations of cortical development. / Oegema, Renske; Barakat, Tahsin Stefan; Wilke, Martina; Stouffs, Katrien; Amrom, Dina; Aronica, Eleonora; Bahi-Buisson, Nadia; Conti, Valerio; Fry, Andrew E; Geis, Tobias; Andres, David Gomez; Parrini, Elena; Pogledic, Ivana; Said, Edith; Soler, Doriette; Valor, Luis M; Zaki, Maha S; Mirzaa, Ghayda; Dobyns, William B; Reiner, Orly; Guerrini, Renzo; Pilz, Daniela T; Hehr, Ute; Leventer, Richard J; Jansen, Anna C; Mancini, Grazia M S; Di Donato, Nataliya.

In: Nature Reviews. Neurology, Vol. 16, No. 11, 11.2020, p. 618-635.

Research output: Contribution to journalArticle

Harvard

Oegema, R, Barakat, TS, Wilke, M, Stouffs, K, Amrom, D, Aronica, E, Bahi-Buisson, N, Conti, V, Fry, AE, Geis, T, Andres, DG, Parrini, E, Pogledic, I, Said, E, Soler, D, Valor, LM, Zaki, MS, Mirzaa, G, Dobyns, WB, Reiner, O, Guerrini, R, Pilz, DT, Hehr, U, Leventer, RJ, Jansen, AC, Mancini, GMS & Di Donato, N 2020, 'International consensus recommendations on the diagnostic work-up for malformations of cortical development', Nature Reviews. Neurology, vol. 16, no. 11, pp. 618-635. https://doi.org/10.1038/s41582-020-0395-6

APA

Oegema, R., Barakat, T. S., Wilke, M., Stouffs, K., Amrom, D., Aronica, E., ... Di Donato, N. (2020). International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews. Neurology, 16(11), 618-635. https://doi.org/10.1038/s41582-020-0395-6

Vancouver

Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews. Neurology. 2020 Nov;16(11):618-635. https://doi.org/10.1038/s41582-020-0395-6

Author

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina ; Stouffs, Katrien ; Amrom, Dina ; Aronica, Eleonora ; Bahi-Buisson, Nadia ; Conti, Valerio ; Fry, Andrew E ; Geis, Tobias ; Andres, David Gomez ; Parrini, Elena ; Pogledic, Ivana ; Said, Edith ; Soler, Doriette ; Valor, Luis M ; Zaki, Maha S ; Mirzaa, Ghayda ; Dobyns, William B ; Reiner, Orly ; Guerrini, Renzo ; Pilz, Daniela T ; Hehr, Ute ; Leventer, Richard J ; Jansen, Anna C ; Mancini, Grazia M S ; Di Donato, Nataliya. / International consensus recommendations on the diagnostic work-up for malformations of cortical development. In: Nature Reviews. Neurology. 2020 ; Vol. 16, No. 11. pp. 618-635.

BibTeX

@article{65f3294cf14c43c593c0a93a78ca680a,
title = "International consensus recommendations on the diagnostic work-up for malformations of cortical development",
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.",
author = "Renske Oegema and Barakat, {Tahsin Stefan} and Martina Wilke and Katrien Stouffs and Dina Amrom and Eleonora Aronica and Nadia Bahi-Buisson and Valerio Conti and Fry, {Andrew E} and Tobias Geis and Andres, {David Gomez} and Elena Parrini and Ivana Pogledic and Edith Said and Doriette Soler and Valor, {Luis M} and Zaki, {Maha S} and Ghayda Mirzaa and Dobyns, {William B} and Orly Reiner and Renzo Guerrini and Pilz, {Daniela T} and Ute Hehr and Leventer, {Richard J} and Jansen, {Anna C} and Mancini, {Grazia M S} and {Di Donato}, Nataliya",
year = "2020",
month = "11",
doi = "10.1038/s41582-020-0395-6",
language = "English",
volume = "16",
pages = "618--635",
journal = "NATURE REVIEWS NEUROLOGY",
issn = "1759-4758",
publisher = "Nature Research",
number = "11",

}

RIS

TY - JOUR

T1 - International consensus recommendations on the diagnostic work-up for malformations of cortical development

AU - Oegema, Renske

AU - Barakat, Tahsin Stefan

AU - Wilke, Martina

AU - Stouffs, Katrien

AU - Amrom, Dina

AU - Aronica, Eleonora

AU - Bahi-Buisson, Nadia

AU - Conti, Valerio

AU - Fry, Andrew E

AU - Geis, Tobias

AU - Andres, David Gomez

AU - Parrini, Elena

AU - Pogledic, Ivana

AU - Said, Edith

AU - Soler, Doriette

AU - Valor, Luis M

AU - Zaki, Maha S

AU - Mirzaa, Ghayda

AU - Dobyns, William B

AU - Reiner, Orly

AU - Guerrini, Renzo

AU - Pilz, Daniela T

AU - Hehr, Ute

AU - Leventer, Richard J

AU - Jansen, Anna C

AU - Mancini, Grazia M S

AU - Di Donato, Nataliya

PY - 2020/11

Y1 - 2020/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85090299541&partnerID=8YFLogxK

U2 - 10.1038/s41582-020-0395-6

DO - 10.1038/s41582-020-0395-6

M3 - Article

C2 - 32895508

VL - 16

SP - 618

EP - 635

JO - NATURE REVIEWS NEUROLOGY

JF - NATURE REVIEWS NEUROLOGY

SN - 1759-4758

IS - 11

ER -

ID: 53859992