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Background <p>Tuberous Sclerosis Complex (TSC) is a multisystem human genetic disorder frequently associated with early-onset epilepsy. Neonatal seizures are increasingly recognized. Detailed neonatal electroclinical characterization remains limited.</p> Methods <p>We conducted a multicentre retrospective study across 16 Italian centres, including 32 neonates (term and preterm) with definitive diagnosis of TSC and at least one EEG- or video-EEG–confirmed seizure during neonatal period. Seizure semiology, EEG features, clinical variables were systematically reviewed and analysed.</p> Results <p>Neonatal seizures were recorded at a mean postnatal age of 8.7 ± 9.9 SD days and a mean postmenstrual age of 39.4 weeks, significatively earlier in preterm VS term newborns (respectively 36,5 ± 1,7 SD and 40,4 ± 1,9 SD; p &lt; .001). Electrographic-only seizures were the most frequent, reported in 58%. Status epilepticus was recorded in 31% of neonates. Interictal EEG abnormalities were present in 83% of infants, while in 17%, seizures occurred without preceding interictal discharges. <i>TSC2</i> was the predominant gene involved (93%).</p> Conclusion <p>Epilepsy in TSC may present in neonatal period as electrographic-only seizures, including status epilepticus, and may occur before term age. This underscores the importance of early EEG monitoring -even in asymptomatic neonates with suspected or confirmed TSC- to enable timely diagnosis and intervention.</p> Impact <p><UnorderedList Mark="Bullet"> <ItemContent> <p>The study shows that neonatal‑onset epilepsy is a key early manifestation of TSC, often presenting as electrographic‑only seizures and sometimes as status epilepticus, especially in infants with TSC2 variants.</p> </ItemContent> <ItemContent> <p>It adds a detailed multicentre electroclinical description demonstrating that seizures may occur before term age, are frequently clinically silent, and interictal epileptic discharges are not always present at seizure onset.</p> </ItemContent> <ItemContent> <p>It highlights the need for early EEG monitoring in all neonates with suspected or confirmed TSC, to enable timely detection of seizures and intervention.</p> </ItemContent> </UnorderedList></p>

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Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis Complex

  • 期刊论文

  • 发表日期：

    2026年5月20日

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  • Serena Pellegrin,
  • Massimo Mastrangelo,
  • Patrizia Accorsi,
  • Susanna Casellato,
  • Elisabetta Cesaroni,
  • Lucrezia De Cosmo,
  • Paola De Liso,
  • Robertino Dilena,
  • Giovanna Franca Fanelli,
  • Sara Gabbiadini,
  • Gaia Alessandra Kullmann,
  • Silvia Lori,
  • Licia Lugli,
  • Maria Margherita Mancardi,
  • Sara Matricardi,
  • Francesco Pisani,
  • Dario Pruna,
  • Stefano Sartori,
  • Federica Teutonico,
  • Irene Toldo,
  • Raffaella Vergaro,
  • Aglaia Vignoli,
  • Roberta Vittorini,
  • Bernardo Dalla Bernardina,
  • Maria Roberta Cilio,
  • Gaetano Cantalupo

摘要

Background

Tuberous Sclerosis Complex (TSC) is a multisystem human genetic disorder frequently associated with early-onset epilepsy. Neonatal seizures are increasingly recognized. Detailed neonatal electroclinical characterization remains limited.

Methods

We conducted a multicentre retrospective study across 16 Italian centres, including 32 neonates (term and preterm) with definitive diagnosis of TSC and at least one EEG- or video-EEG–confirmed seizure during neonatal period. Seizure semiology, EEG features, clinical variables were systematically reviewed and analysed.

Results

Neonatal seizures were recorded at a mean postnatal age of 8.7 ± 9.9 SD days and a mean postmenstrual age of 39.4 weeks, significatively earlier in preterm VS term newborns (respectively 36,5 ± 1,7 SD and 40,4 ± 1,9 SD; p < .001). Electrographic-only seizures were the most frequent, reported in 58%. Status epilepticus was recorded in 31% of neonates. Interictal EEG abnormalities were present in 83% of infants, while in 17%, seizures occurred without preceding interictal discharges. TSC2 was the predominant gene involved (93%).

Conclusion

Epilepsy in TSC may present in neonatal period as electrographic-only seizures, including status epilepticus, and may occur before term age. This underscores the importance of early EEG monitoring -even in asymptomatic neonates with suspected or confirmed TSC- to enable timely diagnosis and intervention.

Impact

The study shows that neonatal‑onset epilepsy is a key early manifestation of TSC, often presenting as electrographic‑only seizures and sometimes as status epilepticus, especially in infants with TSC2 variants.

It adds a detailed multicentre electroclinical description demonstrating that seizures may occur before term age, are frequently clinically silent, and interictal epileptic discharges are not always present at seizure onset.

It highlights the need for early EEG monitoring in all neonates with suspected or confirmed TSC, to enable timely detection of seizures and intervention.