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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Abstract
OBJECTIVE: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs). METHODS: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. SCN2A mutations were examined using high resolution melt analysis or whole exome sequencing. RESULTS: We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13.4%), 1 of 150 West syndrome cases (0.67%), and 5 of 111 with unclassified EOEEs (4.5%). Twelve of the 14 mutations were confirmed as de novo, and all mutations were absent in 212 control exomes. A de novo mosaic mutation (c.3976G>C) with a mutant allele frequency of 18% was detected in one patient. One mutation (c.634A>G) was found in transcript variant 3, which is a neonatal isoform. All 9 mutations in patients with OS were located in linker regions between 2 transmembrane segments. In 7 of the 9 patients with OS, EEG findings transitioned from suppression-burst pattern to hypsarrhythmia. All 15 of the patients with novel SCN2A missense mutations had intractable seizures; 3 of them were seizure-free at the last medical examination. All patients showed severe developmental delay. CONCLUSIONS: Our study confirmed that SCN2A mutations are an important genetic cause of OS. Given the wide clinical spectrum associated with SCN2A mutations, genetic testing for SCN2A should be considered for children with different epileptic conditions.
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“While the observation of seizure improvement is based only on retrospective clinical review, this finding reinforces previous observations of drug response: withdrawal of phenytoin provoking status epilepticus in one case, status treated with fosphenytoin in another, 2 seizure-free on lamotrigine, and one with seizure control on lidocaine.6,12,14”
From SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (2015) · cites this paper as [12]
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Леонидович, С. П., Chebanenko, N. V., Tulupova, S. A., Mednaya, D. M., & Krapivkin, A. I. (2026) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro2026126092101
Metadata
- Authors
- Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., Imai, K., Takeshita, S., Ishiwata, H., Lev, D., Lerman-Sagie, T., Cervantes-Barragán, D. E., Villarroel, C. E., Ohfu, M., Writzl, K., Gnidovec Stražišar, B., Hirabayashi, S., Chitayat, D., Myles Reid, D., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Hayasaka, K., Matsumoto, N., & Saitsu, H.
- Affiliations
- Yamagata University (JP)
- From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of...
- ORCID
- Nakamura, Kazuyuki
- Kato, Mitsuhiro
- Osaka, Hitoshi
- Nakagawa, Eiji
- Haginoya, Kazuhiro
- Tohyama, Jun
- Wada, Takahito
- Shimakawa, Shuichi
- Imai, Katsumi
- Lev, Dorit
- Cervantes-Barragán, David E.
- Villarroel, Camilo E.
- Writzl, Karin
- Chitayat, David
- Nakashima, Mitsuko
- Tsurusaki, Yoshinori
- Miyake, Noriko
- Hayasaka, Kiyoshi
- Matsumoto, Naomichi
- Saitsu, Hirotomo
- Venue
- Neurology
- Published
- 2013-09-10
- Volume
- 81
- Issue
- 11
- Pages
- 992-998
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1967983600
- Cited by
- 201
- References
- 40
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 5 · 2023: 9 · 2022: 8 · 2021: 18 · 2020: 16 · 2019: 19 · 2018: 18 · 2017: 27 · 2016: 16 · 2015: 28 · 2014: 22 · 2013: 3
- FWCI
- 16.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (24591500, 24249019)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Ohtahara syndrome, West syndrome, early-onset epileptic encephalopathy, de novo mutations, novel missense mutation, mosaic mutations, hypsarrhythmia, suppression-burst pattern, developmental delay, refractory seizures, sodium channel gene, genetic testing
- MeSH terms
- Brain, Electroencephalography, Female, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Mutation, Spasms, Infantile, NAV1.2 Voltage-Gated Sodium Channel
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