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...