Article

Anti-seizure Gene Therapy for Focal Cortical Dysplasia

2023-01-09

Abstract excerpt

Focal Cortical Dysplasias (FCDs) are a common subtype of malformation of cortical development, which frequently present with a spectrum of cognitive and behavioural abnormalities as well as pharmacoresistant epilepsy. FCD type II is typically caused by somatic mutations resulting in mTOR hyperactivity, and is the commonest pathology found in children undergoing epilepsy surgery. However, surgical resection does no...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 25ef1b58-a354-57cc-8b12-9e37bc99596b
DOI: 10.1101/2023.01.09.523292

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Anti-seizure Gene Therapy for Focal Cortical DysplasiaDOI 10.1101/2023.01.09.523292Read

Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications.Semantic proximity Read

Brain somatic mutations in MTOR leading to focal cortical dysplasia.Semantic proximity Read

Characterization and application of hyperthermia-evoked seizures in a mouse model of focal cortical dysplasiaSemantic proximity Read

Epilepsy gene therapy using non-integrating lentiviral delivery of an engineered potassium channel geneSemantic proximity Read

Focal cortical dysplasia: a review of pathological features, genetics, and surgical outcome.Semantic proximity Read

<i>In vivo</i> CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsySemantic proximity Read

Targeted Gene and Genome Editing Strategies for Epilepsy: Advances and Translational ChallengesSemantic proximity Read

Focal cortical dysplasia: a practical guide for neurologists.Semantic proximity Read

New developments in understanding focal cortical malformations.Semantic proximity Read

Developmental Characterization of Neuronal Migration Anomalies and Axon Proliferation in mTOR pathway-associated Malformations of Cortical DevelopmentSemantic proximity Read

Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping ReviewSemantic proximity Read

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsySemantic proximity Read