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

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...

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Bibliographic Details
Published in:	Genes Vol. 13; no. 7; p. 1253
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 15-07-2022 MDPI
Subjects:	Age Cognitive ability Convulsions & seizures Diagnosis Electroencephalography Encephalopathy Epilepsy Epilepsy in children Epileptic Syndromes - genetics Ethnicity Etiology Genes Genetic aspects Genetic screening Genetic variation Genotype Genotype & phenotype Humans Mutation NAV1.1 Voltage-Gated Sodium Channel - genetics NAV1.7 Voltage-Gated Sodium Channel - genetics Patients Pediatric research Phenotype Phenotypes Phenotyping Risk factors Romania - epidemiology Seizures Seizures, Febrile - genetics Sodium channels (voltage-gated) Romania United States > US developmental and epileptic encephalopathy NAV1.1 voltage-gated sodium channel Dravet syndrome generalized epilepsy with febrile seizures plus
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Summary:	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 <1 year, and the seizure type was generalized tonic-clonic. Four additional plausible variants of unknown significance in SCN2A, SCN9A, and SLC2A1 correlated with the reported phenotype. Overall, we are reporting seven novel variants. Comprehensive clinical phenotyping is crucial for variant interpretation. Genetic assessment of patients with severe early-onset DEE can be a powerful diagnostic tool for clinicians, with implications for the management and counseling of the patients and their families.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Shared coordinator.
ISSN:	2073-4425 2073-4425
DOI:	10.3390/genes13071253