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Updated: Jul 7, 2026

Electroporation of Sliced Human Cortical Organoids for Studies of Gene Function
Published on: November 29, 2024
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options
Renzo Guerrini1, William B Dobyns, A James Barkovich
1Department of Neurology and Neurosurgery, Children's Hospital A. Meyer, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy. r.guerrini@meyer.it
Genetic studies reveal genes disrupting cortical development, leading to malformations like focal cortical dysplasia. These conditions can cause neurological deficits and drug-resistant epilepsy, often requiring complex surgical planning.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Malformations of cortical development (MCDs) arise from disruptions in key developmental stages.
- Genes implicated in MCDs affect cell proliferation, migration, and cortical organization.
- Major MCD groups include focal cortical dysplasia, heterotopia, and polymicrogyria.
Purpose of the Study:
- To review genetic factors and clinical manifestations of MCDs.
- To discuss the link between MCDs, neurological deficits, and epilepsy.
- To highlight surgical considerations for MCD-related epilepsy.
Main Methods:
- Review of genetic studies on MCDs.
- Analysis of clinical presentations and neurological outcomes.
- Evaluation of epilepsy characteristics and surgical management strategies.
Main Results:
- Genetic disruptions impact cell proliferation, migration, and organization in MCDs.
- MCDs present with variable neurological impairments, including subtle deficits.
- Drug-resistant epilepsy is common, with surgical resection challenging due to potential involvement of eloquent cortex.
Conclusions:
- Understanding the genetic basis of MCDs is crucial for diagnosis and management.
- Comprehensive assessment, including functional imaging, is vital for surgical planning in MCD-related epilepsy.
- Surgical success hinges on complete resection, necessitating careful pre-operative evaluation.
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