Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy

Robertino Dilena, Pasquale Striano, Elena Gennaro, Laura Bassi, Sara Olivotto, Laura Tadini, Fabio Mosca, Sergio Barbieri, Federico Zara, Monica Fumagalli

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction.

PATIENT DESCRIPTION: A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring. Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p.[Met1545Val]) in SCN2A. At two years and three months of age the patient is still seizure-free on carbamazepine, although a developmental delay is evident.

CONCLUSIONS: Sodium channel blockers represent the first-line treatment for confirmed or suspected SCN2A-related epileptic encephalopathies. In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment. Because of their rarity, collaborative studies are needed to delineate shared therapeutic protocols for EIEE based on the electro-clinical features and the presumed underlying genetic substrate.

Original languageEnglish
Pages (from-to)345-348
Number of pages4
JournalBrain and Development
Issue number4
Publication statusPublished - Apr 2017


  • Anticonvulsants
  • Brain
  • Carbamazepine
  • Dose-Response Relationship, Drug
  • Humans
  • Infant, Newborn
  • Male
  • NAV1.2 Voltage-Gated Sodium Channel
  • Phenytoin
  • Sodium Channel Blockers
  • Spasms, Infantile
  • Treatment Outcome
  • Case Reports
  • Journal Article


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