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Article

FRRS1L gene replacement ameliorates disease phenotypes in the mouse model of developmental and epileptic encephalopathy 37.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Jul 2026

Sheibani Mehrnaz, Alao Esther O, Mariam Ummay, Wu Jun, Kasiri Sahba, Talai Afsaneh, Schwenk Jochen, Fakler Bernd, Gray Steven J, Minassian Berge A

Abstract excerpt

Gene therapy offers unique therapeutic potential for treating rare genetic disorders such as DEE37, a severe Developmental and Epileptic Encephalopathy caused by biallelic loss-of-function mutations in the Ferric Chelate Reductase 1 Like (FRRS1L) gene, presenting with seizures, developmental delay, dyskinesia, ataxia and progressive, eventually debilitating cognitive and motor impairments. There is currently no...

Read the complete abstract on PubMed

Topics

Animals
Mice
Genetic Therapy
Disease Models, Animal
Mice, Knockout

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Humans

Phenotype

Gene Therapy Agents

Epilepsy

Male

Mice, Inbred C57BL

Source

Open in PubMed Open full text

Identifiers

PMID: 42430850
DOI: 10.1016/j.neurot.2026.e00961
PMCID: PMC13380197

Genes

FRRS1L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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