0 39

Cited 0 times in

Genetic and clinical features of SCN8A developmental and epileptic encephalopathy

Authors
 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 
Citation
 EPILEPSY RESEARCH, Vol.158 : 106222, 2019 
Journal Title
 EPILEPSY RESEARCH 
ISSN
 0920-1211 
Issue Date
2019
Keywords
Developmental and epileptic encephalopathy ; SCN8A ; Sodium channel blockers
Abstract
OBJECTIVE: We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS: Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patients who were confirmed with SCN8A mutations. RESULTS: The onset of seizures ranged from the neonatal period to 18 months of age. Seizure types were diverse and predominantly involved focal seizures or spasms. The most common initial epilepsy syndrome was West syndrome in four patients, followed by neonatal-onset focal seizures in three patients and unclassified focal epilepsy in two patients. Electroencephalograms (EEGs) showed slow and disorganized background and epileptiform abnormalities with occipital predominance. Six patients presented intractable seizures including one patient with recurrent nonconvulsive status epilepticus. Sodium channel blockers were effective in seven patients among eight patients given them. All patients showed developmental delay or regression. Severe hypotonia or ataxia was also presented in some patients. Microcephaly was also characteristic. De novo missense mutations in SCN8A were found in the inactivation gate, C-terminal, loop 2, and transmembrane segments (S1, 4, 5, and 6). There was no correlation between the location of the mutation in the protein and phenotype or response to sodium channel blockers. CONCLUSION: SCN8A developmental and epileptic encephalopathy presents intractable seizures including spasms, focal seizures, neonatal status epilepticus, and nonconvulsive status epilepticus. Sodium channel blockers were effective irrelevant to the location of the mutation in the protein.
Full Text
https://www.sciencedirect.com/science/article/pii/S0920121119303055
DOI
10.1016/j.eplepsyres.2019.106222
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 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
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174526
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse