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

Molecular genetics & genomic medicine - 1 Jan 2024

Licchetta Laura, Di Giorgi Lucia, Santucci Margherita, Taruffi Lisa, Stipa Carlotta, Minardi Raffaella, Carelli Valerio, Bisulli Francesca

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in the mitochondrial prolyl-tRNA synthetase 2 gene (PARS2, OMIM * 612036) have been associated with Developmental and Epileptic Encephalopathy-75 (DEE-75, MIM #618437). This condition is typically characterized by early-onset refractory infantile spasms with hypsarrhythmia, intellectual disability, microcephaly, cerebral atrophy with hypomyelination, lactic acidemia, and...

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Identifiers

PMID: 38087948
DOI: 10.1002/mgg3.2311
PMCID: PMC10767575

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