Reflex seizures in rare monogenic epilepsies

Area of Science:

• Neuroscience
• Genetics
• Epilepsy Research

Background:

• Reflex seizures (RSs) are epileptic seizures consistently triggered by specific stimuli.
• They can occur in various epilepsy types and are often accompanied by spontaneous seizures.
• The genetic basis of RSs is complex, often involving polygenic or multifactorial inheritance, with single-gene causes being rare.

Purpose of the Study:

• To identify genetic variants associated with reflex seizures.
• To expand the understanding of monogenic causes of reflex epilepsy.
• To broaden the phenotypic spectrum associated with identified genes.

Main Methods:

• Clinical evaluation of individuals with predominant reflex seizures.
• Genetic analysis to identify pathogenic and likely pathogenic variants.
• Literature review of rare monogenic epilepsies associated with reflex seizures.

Main Results:

• Identified pathogenic/likely pathogenic variants in CACNA1A, GNAO1, and NOVA2 genes in individuals with reflex seizures.
• These findings link specific genes to the occurrence of reflex seizures.
• Summarized existing knowledge on rare monogenic epilepsies presenting with reflex seizures.

Conclusions:

• The study expands the phenotypic spectrum of diseases linked to CACNA1A, GNAO1, and NOVA2.
• Identified genetic variants contribute to understanding the monogenic defects underlying reflex seizures.
• Highlights the increasing number of identified genes associated with reflex epilepsy.