Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy

Orgun L. T., Deniz A., Güneş A. S., Akkoyunlu D., CIRDI G., GÖK A., ...Daha Fazla

Seizure, cilt.126, ss.95-98, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 126
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1016/j.seizure.2025.02.002
  • Dergi Adı: Seizure
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.95-98
  • Anahtar Kelimeler: ATP1A2 gene, children, Developmental epileptic encephalopathy, NMDAR antagonist, status epilepticus
  • Kocaeli Üniversitesi Adresli: Evet

Özet

Background: N-methyl-D-aspartate receptor (NMDAR) blockers are important to control seizures in patients with refractory status epilepticus. ATP1A2 gene plays a role in protecting neurons from glutamate and NMDAR-related excitotoxicity. Although variations in the ATP1A2 gene are classically associated with hemiplegic migraine and alternating hemiplegia, in recent years, ATP1A2 variations have been reported with developmental and epileptic encephalopathy (DEE-98) and status epilepticus. Case report: An 11-month-old girl whose neuromotor development regressed following the onset of seizures at five months of age was admitted to the intensive care unit with a diagnosis of status epilepticus. Her seizure was partially responsive to ketamine, and she became seizure-free when memantine, another NMDA receptor blocker, was added to the treatment. Her WES analysis was completed during the second week of memantine treatment, revealing a heterozygous, de-nova, c.2432C>G variant in the ATP1A2 gene. Conclusion: ATP1A2-related DEE-98 is seen as very rare, and some of the patients with DEE-98 died due to refractory status epilepticus. The ATP1A2 gene is important for protecting neurons from glutamate and NMDAR-related excitotoxicity. We want to present the infant to emphasize the importance of targeted therapy with MNDARs in ATP1A2-related seizures, even during the status epilepticus period.