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Article

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

Human mutation - 1 Dec 2013

Kodera Hirofumi, Nakamura Kazuyuki, Osaka Hitoshi, Maegaki Yoshihiro, Haginoya Kazuhiro, Mizumoto Shuji, Kato Mitsuhiro, Okamoto Nobuhiko, Iai Mizue, Kondo Yukiko, Nishiyama Kiyomi, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Hayasaka Kiyoshi, Sugahara Kazuyuki, Yuasa Isao, Wada Yoshinao, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

Early-onset epileptic encephalopathies (EOEE) are severe neurological disorders characterized by frequent seizures accompanied by developmental regression or retardation. Whole-exome sequencing of 12 patients together with five pairs of parents and subsequent Sanger sequencing in additional 328 E...

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PMID: 24115232
DOI: 10.1002/humu.22446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24115232-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.PMID 24115232Read ↗

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