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Article

Neuropsychiatric Phenotype in a Patient with Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy (NEDEGE).

Genes - 21 Jun 2026

Szczęśniak Dominika, Wilczek Anna, Mroczek Magdalena

Abstract excerpt

We report the oldest female identified to date with a pathogenic NBEA variant who has been followed longitudinally. She presented with a complex, diagnostically inconclusive psychiatric phenotype extending in adulthood and a suspected mild neurodevelopmental impairment. The 64-year-old patient experienced recurrent episodes of mental state decompensation characterized predominantly by persecutory and...

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Identifiers

PMID: 42353872
DOI: 10.3390/genes17060713
PMCID: PMC13299814

Genes

NBEA
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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