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A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.

Brain & development - 1 Feb 2021

Iwafuchi Sota, Kikuchi Atsuo, Endo Wakaba, Inui Takehiko, Aihara Yu, Satou Kazuhito, Kaname Tadashi, Kure Shigeo

Abstract excerpt

BACKGROUND: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. CASE REPORT: A 21-month-old Japanese girl presented with febrile status epilepticus and...

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Identifiers

PMID: 33097317
DOI: 10.1016/j.braindev.2020.09.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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