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Article

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.

Brain & development - 1 Feb 2015

Goto Masahide, Saito Yoshiaki, Honda Ryoko, Saito Takashi, Sugai Kenji, Matsuda Yuko, Miyatake Chiharu, Takeshita Eri, Ishiyama Akihiko, Komaki Hirofumi, Nakagawa Eiji, Sasaki Masayuki, Uto Chieko, Kikuchi Kenjiro, Motoki Takahiro, Saitoh Shinji

Abstract excerpt

OBJECTIVE: Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. This makes the diagnosis of the former subgroup often difficult. We here characterized epilepsy, specifically the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24796722
DOI: 10.1016/j.braindev.2014.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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