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Article

A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation.

Brain & development - 1 Nov 2023

Akiyama Mari, Akiyama Tomoyuki, Saitsu Hirotomo, Tokioka Yukie, Tsukahara Rie, Tsuchiya Hiroki, Shibata Takashi, Kobayashi Katsuhiro

Abstract excerpt

BACKGROUND: MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. CASE REPORT: The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause. She had demonstrated slow but...

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Identifiers

PMID: 37550174
DOI: 10.1016/j.braindev.2023.07.006

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