Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies

•A high rate of successful genetic investigation is found among DEE patients.•First febrile seizure and hypotonia predict the genetic etiology for DEE.•Atonic seizures decrease the chances of finding a genetic cause for DEE.•EMAtS, DEE with SWAS and LGS were negatively associated with a genetic etio...

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Published in:Epilepsy & behavior 2024-06, Vol.155, p.109762-109762, Article 109762
Main Authors: Luiza Benevides, Maria, de Moraes, Helena T., Granados, Diana M.M., Bonadia, Luciana C., Sauma, Letícia, Augusta Montenegro, Maria, Guerreiro, Marilisa M., Lopes-Cendes, Íscia, Carolina Coan, Ana
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Electroencephalography
Epilepsies, Myoclonic - diagnosis
Epilepsies, Myoclonic - genetics
Epilepsy
Epilepsy - diagnosis
Epilepsy - genetics
Epilepsy - physiopathology
Exome Sequencing
Female
Genetic
Genetic Testing
Humans
Infant
Lennox Gastaut Syndrome - diagnosis
Lennox Gastaut Syndrome - genetics
Male
NAV1.1 Voltage-Gated Sodium Channel - genetics
Neurodevelopmental disorders
Young Adult
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Summary:•A high rate of successful genetic investigation is found among DEE patients.•First febrile seizure and hypotonia predict the genetic etiology for DEE.•Atonic seizures decrease the chances of finding a genetic cause for DEE.•EMAtS, DEE with SWAS and LGS were negatively associated with a genetic etiology. Objective: To evaluate the clinical predictors of positive genetic investigation in developmental and epileptic encephalopathies, beyond the influence of Dravet Syndrome. Methods: The study included 98 patients diagnosed with developmental and epileptic encephalopathies. The patients underwent Sanger sequencing of SCN1A, Chromosomal Microarray Analysis, and Whole Exome Sequencing. The association of clinical variables with a positive genetic test was investigated using univariate and multivariate analysis. Results: Genetic diagnosis was identified in 47 (48 %) patients with developmental and epileptic encephalopathies. Beyond Dravet Syndrome influence, first seizure in the context of fever (p 
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2024.109762