ReviewThe Lancet. Neurology2014
Malformations of cortical development: clinical features and genetic causes.
Review in The Lancet. Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 221 papers, 3 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
221 citing papers in PubMed, 3 syntheses or guidelines pooled 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
- Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis.Journal of molecular neuroscience : MN · 2021Pooled it
- Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.Brain pathology (Zurich, Switzerland) · 2019Pooled it
- Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.European journal of human genetics : EJHG · 2019Trial
- TH/TRs-COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation.Pediatric radiology · 2026Article
- TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.Human genetics · 2026Article
- Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.Acta neuropathologica · 2026Review
- Article
- Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models.bioRxiv : the preprint server for biology · 2026Article
- Neuroimaging spectrum of GATOR1-related epilepsy (GATORopathies).Neuroradiology · 2026Article
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.Croatian medical journal · 2026Article
- Neuroanatomical correlates of neuropsychological dysfunction in pediatric pharmacoresistant epilepsy due to focal cortical dysplasia type II.Epilepsia open · 2026Article
- CRL4EMBO 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
- Epilepsy: Molecular Pathogenesis and Emerging Therapies.MedComm · 2026Review
- Review
- MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria.Scientific reports · 2026Article
- Position-independent emergence of neocortical neuron molecular identity, connectivity and function.Nature neuroscience · 2026Article
161 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
2 authors.
Funding
Abstract
Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders.
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Registered trials
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.