Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian Cohort
| Autor: | Anca-Lelia, Riza, Ioana, Streață, Eugenia, Roza, Magdalena, Budișteanu, Catrinel, Iliescu, Carmen, Burloiu, Mihaela-Amelia, Dobrescu, Stefania, Dorobanțu, Adina, Dragoș, Andra, Grigorescu, Tiberiu, Tătaru, Mihai, Ioana, Raluca, Teleanu |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
NAV1.1 Voltage-Gated Sodium Channel
developmental and epileptic encephalopathy Dravet syndrome generalized epilepsy with febrile seizures plus NAV1.1 voltage-gated sodium channel Phenotype Romania Mutation NAV1.7 Voltage-Gated Sodium Channel Genetics Humans Epileptic Syndromes Seizures Febrile Genetics (clinical) |
| Zdroj: | Genes; Volume 13; Issue 7; Pages: 1253 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes13071253 |
| Popis: | 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 2020. The patients had been admitted to and clinically evaluated at Doctor Victor Gomoiu Children’s Hospital and Prof. Dr. Alexandru Obregia Psychiatry Hospital in Bucharest. Panel testing was performed using the Illumina® TruSight™ One “clinical exome” (4811 genes), and the analysis focused on the known genes reported in DEEs and clinical concordance. The overall diagnostic rate was 25% (9/36 cases). Seven cases were diagnosed with Dravet syndrome (likely pathogenic/pathogenic variants in SCN1A) and two with Genetic Epilepsy with Febrile Seizures Plus (SCN1B). For the diagnosed patients, seizure onset was |
| Databáze: | OpenAIRE |
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