ReviewHuman genetics2009
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
Review in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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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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Who cites it
18 citing papers in PubMed, 57 citations in OpenAlex.
- Clinical Grading of Artificial Intelligence-Based 3D Fetal Brain Segmentations: A Cross-Vendor Evaluation of Deep Learning in Fetal Neuroimaging.Prenatal diagnosis · 2026Article
- Review
- Normal and Disordered Formation of the Cerebral Cortex : Normal Embryology, Related Molecules, Types of Migration, Migration Disorders.Journal of Korean Neurosurgical Society · 2019Article
- Generation of a multipurposeDisease models & mechanisms · 2017Article
- Cerebral cortex expansion and folding: what have we learned?The EMBO journal · 2016Review
- A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2013Review
- Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.European journal of human genetics : EJHG · 2013Article
- Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutant.Cerebral cortex (New York, N.Y. : 1991) · 2013Article
- Cortical dysplasia: a possible substrate for brain tumors.Future oncology (London, England) · 2012Article
- Neurological phenotypes for Down syndrome across the life span.Progress in brain research · 2012Review
- Identifying targets for preventing epilepsy using systems biology.Neuroscience letters · 2011Review
- Layer I neocortical ectopia: cellular organization and local cortical circuitry.Brain research · 2011Article
- TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.American journal of human genetics · 2010Article
- Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.Neurobiology of disease · 2010Review
- The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.Acta neuropathologica · 2010Article
- Induction of neuro-protective/regenerative genes in stem cells infiltrating post-ischemic brain tissue.Experimental & translational stroke medicine · 2010Article
- Brain function and anatomy in juvenile myoclonic epilepsy.Epilepsy currents · 2010Article
- Genetics and the brain: many pathways to enlightenment.Human genetics · 2009Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.
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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.