Developmental and epileptic encephalopathies: what we do and do not know

Area of Science:

• Neuroscience
• Genetics
• Developmental Biology

Background:

• Developmental encephalopathies, such as intellectual disability and autism, frequently co-occur with infant epilepsy.
• The term 'epileptic encephalopathy' implies a direct causal link from epilepsy to developmental delay.
• Evidence suggests developmental encephalopathies can occur independently of epilepsy, challenging the traditional term.

Purpose of the Study:

• To propose 'developmental and epileptic encephalopathy' as a more accurate term than 'epileptic encephalopathy'.
• To review gene variants associated with both conditions to support this terminology.
• To explore the interaction between epilepsy and developmental encephalopathies in treatment decisions.

Main Methods:

• Review of scientific literature on gene variants linked to developmental encephalopathies and epilepsy.
• Analysis of cases demonstrating developmental encephalopathies without epilepsy.
• Consideration of seizure control's impact on developmental trajectory.

Main Results:

• Identification of numerous gene variants associated with both developmental encephalopathies and epilepsy.
• Observation of developmental encephalopathies persisting even with controlled seizures.
• Gene variants can cause developmental encephalopathies independently of epilepsy.

Conclusions:

• 'Developmental and epileptic encephalopathy' is a more fitting term, acknowledging the complex interplay.
• Understanding genetic underpinnings is crucial for accurate diagnosis and treatment.
• Advancements in genetic testing promise earlier diagnosis and targeted therapies.