The Value Of Clinical Factors For Genetic Testing Utility In Infantile Developmental And Epileptic Encephalopathies
Objective: To identify the value of pre-defined clinical predictors for genetic testing results in infantile developmental and epileptic encephalopathies (DEEs).
Methods: Two comparative study group designed; group I (n=127): patients with gene named DEEs, and group II (n=39): Whole exome sequencing (WES) was performed in all patients with unknown etiology. The following 16 independent risk factors were evaluated for negative genetic testing: gender, type of seizure, seizure frequency, age at seizure onset (neonatal, <2 years), presence of epileptic spasm and tonic seizure, genetic stigma, abnormal neurologic imaging, special EEG pattern, abnormal metabolic screening test, febrile seizure, status epilepticus, family history of epilepsy, morbidity, consanguinity, and intellectual status (Table 1).
Results: Six clinical predictors were defined for a negative genetic testing with univariate analysis: history of febrile seizure (hazard ratio [HR]: 5.974; 95% confidence interval [CI]: 1.361-26.226), age at seizure onset < 2 years (HR: 6.354; 95% CI: 1.442-28.007), presence of epileptic spasm (HR: 2.723; 95% CI: 1.301-5.702), presence of special EEG pattern (HR: 5,2; 95% CI: 1.718-15.738), comorbidity (HR: 2.622; 95% CI: 1.018-6.753), intellectual status (HR: 2.644; 95% CI: 1.209-5.786). However, all predictors except the history of febrile seizure were statistically significant in multivariate analysis.
Conclusion: This study revealed six predictors for a negative genetic testing in the presented infantile DEEs cohort. However, each clinical factors might an indicative of a well-defined electroclinical syndrome, or a gene named DEEs. Then, we considered to continue genetic testing with additional / new genetic testing modalities (WGS, RNA sequencing and genomic mapping analysis.
Seda Kanmaz
Ege University Medical Faculty
Turkey
Yavuz Atas
Ege University Medical Faculty
Turkey
Dilara Ece Toprak Dogan
Ege University Medical Faculty
Turkey
Cemile Busra Olculu
Ege University Medical Faculty
Turkey
Tugce Ince
Ege University Medical Faculty
Turkey
Ozlem Yilmaz
Ege University Medical Faculty
Turkey
Gursel Sen
Ege University Medical Faculty
Turkey
Selin Karatas
Ege University Medical Faculty
Turkey
Enise Avci Durmusalioglu
Ege University Medical Faculty
Turkey
Esra Isik
Ege University Medical Faculty
Turkey
Tahir Atik
Ege University Medical Faculty
Turkey
Ozgur Cogulu
Ege University Medical Faculty
Turkey
Gül Aktan
Ege University Medical Faculty
Turkey
Sarenur Gökben
Ege University Medical Faculty
Turkey
Sanem Yılmaz
Ege University Medical Faculty
Turkey
Hasan Tekgul
Ege University Medical Faculty
Turkey
![Image](/eposters/images/2024/05/01/522-min.png)
Seda Kanmaz
Ege University Medical Faculty
Turkey