ReviewNature reviews. Neurology2020
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Review in Nature reviews. Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
68 citing papers in PubMed, 4 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Efficacy of neurosurgical interventions for epilepsy in polymicrogyria: A systematic review.Epilepsia open · 2026Pooled it
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- EANM practice guidelines for an appropriate use of PET and SPECT for patients with epilepsy.European journal of nuclear medicine and molecular imaging · 2024Guideline
- Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.Genome medicine · 2021Pooled it
- Biophysical modeling of anatomically realistic prenatal cortical folding development.Nature communications · 2026Article
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.Croatian medical journal · 2026Article
- Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenicMolecular genetics and metabolism reports · 2026Article
- Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.Orphanet journal of rare diseases · 2026Article
- ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review.NeuroSci · 2026Article
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
- Differences in iron content between gray matter heterotopia and normal gray matter.Quantitative imaging in medicine and surgery · 2026Article
- Counseling Reproductive-Age Youth With Epilepsy: Literature Review and Expert Opinion From the Epilepsy in the Child-Bearing Ages Through Menopause Consortium.Pediatric neurology · 2026Review
- Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.Nature communications · 2026Article
- Biophysical modeling of anatomically realistic prenatal cortical folding development.Research square · 2026Article
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.American journal of human genetics · 2026Article
- Zygosity-Dependent Phenotypic Spectrum ofHuman mutation · 2026Article
- Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.Brain communications · 2026Article
- Article
- High-throughput bioprinting to produce micropatterned neuroepithelial tissues and model TSC2-deficient brain malformations.Cell reports methods · 2025Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 20 institutions in 14 countries.
Funding
No grant is acknowledged in the PubMed record.
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.