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Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Kristina Jülich1, Kristen Arredondo1
1Department of Neurology, The University of Texas at Austin Dell Medical School Austin Texas USA.
Annals of the Child Neurology Society
|August 7, 2026
Summary
Neonatal seizures are common in tuberous sclerosis complex (TSC), particularly in infants with TSC2 mutations. Early EEG monitoring is recommended for high-risk infants to improve neurocognitive outcomes.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC).
- Earlier seizure onset in TSC is linked to poorer neurocognitive outcomes.
- The incidence of neonatal seizures in TSC is largely unknown.
Purpose of the Study:
- To determine the rate of neonatal seizures in a cohort of TSC patients.
- To identify risk factors and outcomes associated with neonatal seizures in TSC.
Main Methods:
- Single-center medical records review of TSC patients (2020-2025).
- Identification of patients with neonatal seizure onset.
- Analysis of seizure types, genetic mutations (TSC1/TSC2), epilepsy development, and neurodevelopmental outcomes.
Main Results:
- Four out of six (67%) infants with TSC data from the neonatal period experienced neonatal seizures.
- All patients with neonatal seizures had TSC2 mutations and developed drug-resistant epilepsy.
- Two patients with neonatal seizures developed infantile spasms despite early treatment; two without neonatal seizures had milder neurodevelopmental impairment.
Conclusions:
- Neonatal seizures appear common in TSC, especially in infants with TSC2 mutations and highly epileptogenic lesions.
- Early EEG monitoring is advisable for high-risk TSC infants.
- Emerging mTOR inhibitor treatments may impact management strategies.
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