Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Authors:
Licchetta L; Di Giorgi L; Santucci M; Taruffi L; Stipa C and 3 more

Journal:
Mol Genet Genomic Med

Publication Year: 2023

DOI:
10.1002/mgg3.2311

PMCID:
PMC10767575

PMID:
38087948

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"CONFLICT OF INTEREST STATEMENT None of the authors have any conflict of interest to disclose."

Evidence found in paper:

"FUNDING INFORMATION Italian Epilepsy Federation (FIE), project "Identification of genes underlying early‐onset epileptic encephalopathies" to F. Bisulli"

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Last Updated: Aug 05, 2025