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D. Freitas

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Open access Oct 2026

PACS2-related DEE66: closing a three-decade diagnostic odyssey through electro-radio-genetic correlation and precision therapy

Case Presentation: A 28-year-old female from Maceió, Brazil, presented with drug-resistant early-onset epilepsy beginning at three months of age. Initial seizures consisted of focal motor events associated with cyanosis and episodic nystagmus. During childhood, she exhibited a high seizure burden, with frequent seizure...

Victor Costa Guido Santos, Fernanda Mel Costa Moraes, A. L. A. de Albuquerque et al. · 0 citations

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