Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

doi:10.1212/WNL.0b013e3182a43e57

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Article

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology - 10 Sept 2013

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 Strazisar Barbara, Hirabayashi Shinichi, Chitayat David, Myles Reid Diane, Nishiyama Kiyomi, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hayasaka Kiyoshi, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

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 exami...

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PMID: 23935176
DOI: 10.1212/WNL.0b013e3182a43e57

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23935176-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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