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Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.

Genes - 15 Jul 2022

Riza Anca-Lelia, Streață Ioana, Roza Eugenia, Budișteanu Magdalena, Iliescu Catrinel, Burloiu Carmen, Dobrescu Mihaela-Amelia, Dorobanțu Stefania, Dragoș Adina, Grigorescu Andra, Tătaru Tiberiu, Ioana Mihai, Teleanu Raluca

Abstract excerpt

Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs have heterogeneous etiologies. This study includes 36 Romanian patients referred to the Regional Centre for Medical Genetics Dolj for genetic testing between 2017 and...

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Identifiers

PMID: 35886038
DOI: 10.3390/genes13071253
PMCID: PMC9322987

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