Molecular Diagnostics and Therapeutics of Epileptic Neurodevelopment

Dear Colleagues,

Causes of epilepsy, the most common neurological condition worldwide, include hypoxia, ischemia, CNS infection, or brain injury, as well as genetic causes, such as chromosomal anomalies (trisomy 21 or ring chromosome 20), monogenic neurodevelopmental disorders (fragile X, Rett, and Angelman syndromes), and causative, usually de novo, variants in genes implicated in neuronal function. Epilepsy syndromes may be classified according to the age of onset (neonatal–infantile, childhood, and variable), the seizure semiology, and the underlying pathogenic mechanism (channelopathies, synaptopathies, and interneuronopathies). Advancing technologies keep revealing novel epileptogenic mechanisms, such as neurodegeneration, defects in the neuronal crest, cytoskeleton organization and chromatin modification, cellular interference, and the accumulation of toxic products, in addition to new correlations with causative genetic defects in novel genes.

Molecular genetic testing for diagnoses currently employs next-generation sequencing applications towards the detection and characterization of (likely) pathogenic variants. A definitive diagnosis enables trial recruitment as well as enrollment, and optimized, even personalized, medical management, whereby specific medications may be selected or excluded.

The focus of this Special Issue on the molecular diagnostics and therapeutics of epileptic neurodevelopment calls for submissions on findings that will further expand our knowledge on the mechanisms underlying the development of epilepsy. The discovery and characterization of genetic and epigenetic factors linked to epileptogenesis are constant and expected to provide novel insights to the scientific community. In light of novel findings and the emerging genetically based therapeutic procedures, manuscripts of all kinds (original research reports, reviews, perspectives/opinions, and methodologies) are most welcome and anticipated to showcase the importance of molecular diagnostics when studying epileptic neurodevelopment.

Dr. Christalena Sofocleous
Guest Editor

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• epileptic neurodevelopment
• molecular diagnostics
• next-generation sequencing
• genetics
• epigenetics
• pathogenic/likely pathogenic variants
• therapeutics