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The Genetic Landscape In Infantile Epilepsies: A Molecular–genetic Specific Diagnosis For Therapeutic Aspects and Outcome

Objective: (1) To investigate the genetic landscape in infantile epilepsies specific with a molecular-genetic specific diagnosis for therapeutic aspects and outcome. Methods: The study group consisted of 150 patients with infantile epilepsy between 2010-2021. The most likely specific etiologies were coded by agreement of two reviewers. Based genetic tests (karyotyping, micro-array, gene panels, clinic exome analysis, and whole-exome sequencing) on patients and whole-exome trio analysis were discussed on the Ege Pediatric Neurogenetic Case-Management Councils. Candidate genetic epilepsies are divided into four subgroups by molecular basis; cell proliferation defect, cell migration defects, inborn errors of metabolism, and lastly loss-of-function variants. Results: Of the 150 patients, 107 (71.3%) had a molecular-genetic diagnosis using next-generation sequencing tests, the remaining had a specific diagnosis with chromosomal tests and multiplex ligation-dependent probe amplification. Three subgroups categorized with the seizure occurrence time; group I; 22 (14.7%) patients with seizures in the neonatal period (<28 days of postnatal life), group II: 34 (22.6%) patients with seizures in the early infantile period (between 1 to 3 months of age, and group II: 94 (62.6%) patients with seizures in the late infantile period (> 3months of age). Specific molecular diagnosis established with the genetic tests; cellular proliferation defect (n:18,12%), cell migration defect (n:6, 4%), metabolic (n:2,1.3%), functional 106 (70.7%). The specific molecular-genetic diagnosis provided a significant therapeutic yield in 76 (50.5%) patients with precision medicine (Table 1). Conclusion: This retrospective cohort study with extensive use of genetic testing in children with infantile epilepsies provided more diagnostic and therapeutic yields.

Muhittin Özcan
Ege University Medical Faculty
Turkey

Seda Kanmaz
Ege University Medical Faculty
Turkey

Cemile Busra Olculu
Ege University Medical Faculty
Turkey

Dilara Ece Toprak
Ege University Medical Faculty

Tugce Ince
Ege University Medical Faculty
Turkey

Ozlem Yilmaz
Ege University Medical Faculty
Turkey

Gursel Sen
Ege University Medical Faculty

Yavuz Atas
Ege University Medical Faculty

Hepsen Mine Serin
Ege University Medical Faculty
Turkey

Sanem Yılmaz
Ege University Medical Faculty
Turkey

Hasan Tekgül
Ege University Medical Faculty
Turkey

 


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