Background
PCDH19-clustering epilepsy is a rare genetic form of epilepsy that typically begins in childhood and can also be associated with learning, behavioural and mental health difficulties. People with epilepsy can sometimes experience functional (dissociative) seizures, which can look similar to epileptic seizures but are not caused by abnormal electrical brain activity. Distinguishing between the two can be challenging.
Research
In this international study, researchers reviewed 27 people with genetically confirmed PCDH19-clustering epilepsy attending six specialist epilepsy centres in Europe. Eight people were found to have experienced functional seizures, most commonly beginning during adolescence. In six, the functional seizures were initially mistaken for epileptic seizures, sometimes leading to increases in anti-seizure medication and hospital admissions that were not needed.
Potential Impact
The findings highlight the importance of recognising that people with PCDH19-clustering epilepsy may experience both epileptic and functional seizures. Earlier and more accurate diagnosis could help avoid unnecessary medication changes and hospital admissions, while allowing people to access appropriate support from psychology, psychiatry and occupational therapy. Greater awareness among healthcare professionals could therefore improve care and quality of life for people living with this rare form of epilepsy.