The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy

Hyo Jeong Kim, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung Tae Lee, Hoon Chul Kang

Research output: Contribution to journalArticlepeer-review

Abstract

Aims. We aimed to delineate the phenotypic spectrum of SCN2A-related developmental and epileptic encephalopathy (DEE) and determine the effectiveness of various treatment modalities, including sodium channel blockers and the ketogenic diet. Methods. Eleven patients with SCN2A-related DEE were included in the study. The characteristics of SCN2A mutations, electroclinical features, clinical course, and response to treatment modalities were analysed. Results. The 11 patients were aged between 0.4 and 9.7 years. The onset of seizures ranged from neonate (six patients) to infant (four patients), to childhood (one patient). Epilepsy presented as Ohtahara syndrome, West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS), and focal epilepsy in neonatal- to infantile-onset patients. The only childhood-onset patient in our study presented with focal epilepsy with autism. Neonatal-to infantile-onset patients had drug-resistant epilepsy (9/10), however, sodium channel blockers were effective in all treated patients (9/9). The ketogenic diet (6/8) and high-dose steroid treatment (4/5) were also effective. The seizures in the childhood-onset patient worsened during treatment with sodium channel blockers. All mutations in neonatal- to infantile-onset patients were missense mutations, whereas the mutation in the childhood-onset patient was a truncation mutation. Conclusions. These results support earlier observations regarding the epilepsy syndromes and response to antiepileptic drugs in patients with SCN2A-related DEE.

Original languageEnglish
Pages (from-to)563-570
Number of pages8
JournalEpileptic Disorders
Volume22
Issue number5
DOIs
Publication statusPublished - 2020 Oct

Bibliographical note

Funding Information:
This research was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI18C0586) and by a faculty research grant from Yonsei University College of Medicine (6‐2019‐0075).

Publisher Copyright:
© 2020 Epileptic Disorders

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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