Epilepsy and chromosome 18 abnormalities: A review

Area of Science:

• Genetics
• Neurology
• Epilepsy

Background:

• Chromosome 18 aberrations are rare genetic conditions.
• Epilepsy is a common neurological comorbidity in these syndromes.

Purpose of the Study:

• To analyze epilepsy types in subjects with chromosome 18 aberrations.
• To define clinical, electroclinical, and prognostic aspects of epilepsy in these anomalies.

Main Methods:

• Literature review of studies from 1980-2015.
• Analysis of major groups of chromosome 18 aberrations and associated epilepsy.

Main Results:

• Epilepsy prevalence reaches 65% in trisomy or duplication of chromosome 18.
• Epilepsy onset is often within the first year of life; seizures can be focal or generalized.
• Brain abnormalities noted in 38% of patients; polytherapy often required for seizure control.

Conclusions:

• Epilepsy types differ based on the specific chromosome 18 aberration (e.g., focal seizures in 18q- deletion, complex partial and generalized tonic-clonic seizures in trisomy 18).
• Epilepsy prognosis is variable, with drug resistance observed in about half of affected children, particularly those with trisomy 18 and generalized epilepsy.