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Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Pediatric neurology - 1 Apr 2026

Torbati Paria Najarzadeh, Salehirozveh Mostafa, Toosi Mehran Beiraghi, Ahangari Najmeh, Doosti Mohammad, Ashrafzadeh Farah, Akhondian Javad, Hashemi Narges, Safi Mojtaba, Hanieh Sadat Mirzadeh, Malek Hadis, Farsi Farima, Imannezhad Shima, Karimiani Ehsan Ghayoor

Abstract excerpt

BACKGROUND: Early infantile epileptic encephalopathy (EIEE) is a severe subtype of developmental and epileptic encephalopathies, characterized by early-onset, refractory seizures and associated with progressive psychomotor impairment, intellectual disability, and increased early mortality. In this cohort study, we evaluated patients diagnosed with 34 distinct EIEE subtypes over a 3-year period. In addition, we...

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PMID: 41633218
DOI: 10.1016/j.pediatrneurol.2025.12.015

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