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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 
 EPILEPTIC DISORDERS, Vol.22(5) : 563-570, 2020-10 
Journal Title
Issue Date
SCN2A ; developmental and epileptic encephalopathy ; sodium channel blockers
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Borahm(김보람) ORCID logo https://orcid.org/0000-0003-0923-7744
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Yang, Donghwa(양동화)
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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