New ILAE and NSGC consensus guidance calls for earlier genetic testing, faster surgical referral, and universal anxiety/depression screening in pediatric epilepsy.
🔬 Clinical Considerations
- Exome or genome sequencing now recommended first-tier for all unexplained epilepsy regardless of age; diagnostic yield for GS reaches 48% versus 7% for small multigene panels
- Referral after 2 failed ASMs is now the consensus threshold for epilepsy surgery evaluation; delays increase injury risk, cognitive decline, and mortality without improving medication outcomes
- Phenobarbital confirmed as first-line ASM for neonatal seizures; NeoLEV trial showed phenobarbital significantly outperformed levetiracetam at 1 and 24 hours post-administration
- Universal anxiety and depression screening recommended annually for all pediatric epilepsy patients beginning at age 7; unaddressed comorbidities worsen seizure control and medication adherence
- UK Epilepsy12 audit data confirm guidelines improve care processes, but surgical referral rates remain stubbornly low, highlighting persistent implementation gaps
🎯 Practice Applications
- Order exome or genome sequencing as first-tier testing for any patient with unexplained epilepsy before pursuing smaller panels
- Refer patients failing a second appropriate ASM to a specialized epilepsy center without waiting for further medication trials
- Implement standardized annual mental health screening at age 7+ for all pediatric epilepsy patients using validated, age-appropriate instruments
- Discontinue ASMs before discharge following acute provoked neonatal seizures without evidence of neonatal-onset epilepsy
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