Cited by 201Epilepsy research and treatmentIon channel regulation and functionGenomics and Rare Diseases

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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Nakamura, Kazuyuki, Kato, Mitsuhiro, Osaka, Hitoshi, Yamashita, Sumimasa, Nakagawa, Eiji, Haginoya, Kazuhiro, Tohyama, Jun, Okuda, Mitsuko, Wada, Takahito, Shimakawa, Shuichi, Imai, Katsumi, Takeshita, Saoko, Ishiwata, Hisako, Lev, Dorit, Lerman-Sagie, Tally, Cervantes-Barragán, David E., Villarroel, Camilo E., Ohfu, Masaharu, Writzl, Karin, Gnidovec Stražišar, Barbara, Hirabayashi, Shinichi, Chitayat, David, Myles Reid, Diane, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo·2013·Neurology

DOI 10.1212/wnl.0b013e3182a43e57

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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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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
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2013-09-10
Volume: 81
Issue: 11
Pages: 992-998
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.0b013e3182a43e57
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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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

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