AOCCN 2025: A Single Centre Prospective Study on Motor Manifestations in Genetic Epilepsy: A Complex Association

Presenter: Dr. Thanuja B

The study recruited 147 children suspected to have genetic epilepsy (epilepsy onset before 3 years of age). The subjects exhibited motor manifestations that had not progressed over a follow-up period of one year. Of these, 91 patients had a confirmed etiology [as per the whole exome sequencing WES) data] and 51 (56%) had significant motor abnormalities.

The most common motor manifestation observed in these patients was dystonia (22.22%) followed by spasticity (17.58%), hypotonia (15.56%), ataxia (12.2%), choreoathetosis (4.4%), and rigidity (2.2%). The WES yield in 147 cases in the presence of rigidity, ataxia, spasticity, hypotonia, and dystonia was 100%, 91.67%, 69.57%, 63.64%, and 60.6% respectively. Motor abnormalities are common affecting over half of genetic epilepsy cases. Genes known to cause epilepsy (SCN1A, KCNQ2) may also be associated with significant motor problems including cerebral palsy. Early recognition, guidance and treatment may help improve the quality of life in these children.

AOCCN 2025, September 17th-20th 2025, New Delhi, India.