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

The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.

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
Open this paper in CoChat — free account

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.

Overview

Integrity signals

Registry

Crossref · 10.1212/wnl.0b013e3182a43e57

Cites

40 of 40 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 40 references

Cited by

Sorted by citations

Items 101–200 of 201

Related

See all

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
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review