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Article

Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.

Pediatric neurology - 1 Jun 2023

Chen Yinhui, Rong Shiwen, Luo Han, Huang Binglong, Hu Fang, Chen Min, Li Chengyan

Abstract excerpt

BACKGROUND: Harel-Yoon syndrome is a disease caused by variants in the ATAD3A gene, which manifest as global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. The aim of this study is to summarize the clinical and gene mutation characteristics of a child with refractory epilepsy caused by ATAD3A gene mutation. METHODS: The whole-exome sequencing combined with copy number variation...

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Source

Identifiers

PMID: 37031571
DOI: 10.1016/j.pediatrneurol.2023.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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