Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

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Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

Published:2023-11 Issue:10 Volume:45 Page:583-587
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Sano Kentaro^ORCID,Miya Fuyuki^ORCID,Kato Mitsuhiro,Omata Taku,Takanashi Jun-ichi^ORCID

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Tokyo Women's Medical University

School of Medicine, Tokai University

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures;Au;Am J Med Genet A,2014

2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype;Balak;Am J Med Genet A,2018

3. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability;Schneider;Epilepsia,2021

4. Systematic analysis and nomenclature of mammalian F-box proteins;Jin;Genes Dev,2004

5. The role of ubiquitylation in nerve cell development;Kawabe;Nat Rev Neurosci,2011

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