Phenobarbital in HECW2-associated epileptic encephalopathy: unexpected clinical efficacy Фенобарбитал при HECW2-ассоциированной эпилептической энцефалопатии: неожиданная клиническая эффективность

Batyrov M., PER H., Mamytova E., Nurbekova U.

Russkii Zhunal Detskoi Nevrologii, cilt.20, sa.2, ss.71-77, 2025 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 2
  • Basım Tarihi: 2025
  • Doi Numarası: 10.17650/2073-8803-2025-20-2-71-77
  • Dergi Adı: Russkii Zhunal Detskoi Nevrologii
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.71-77
  • Anahtar Kelimeler: drug-resistant seizures, epileptic encephalopathy, genetic epilepsy, HECW2 mutations, neurogenesis, phenobarbital
  • Erciyes Üniversitesi Adresli: Evet

Özet

Mutations in the HECW2 gene cause severe neurodevelopmental disorders, including epileptic encephalopathy, psychomotor delay, and drug-resistant seizures. The article presents a clinical case of a 2-year-old girl with epilepsy onset at 3 months, developmental regression, hypotonia, and dysmorphic features. Genetic testing revealed a heterozygous missense mutation in the HECW2 gene (c.3988C>T, p.Arg1330Trp). Electroencephalogram showed generalized, multifocal epileptiform discharges, and magnetic resonance imaging revealed external hydrocephalus. In treatment against the background of the ineffectiveness of carbamazepine, valproate and levetiracetam, significant seizure control was achieved with phenobarbital in combination with levetiracetam. This case highlights the challenges in treating HECW2-related epilepsy and suggests phenobarbital as a potential option for refractory seizures.