ArticleRevista da Associacao Medica Brasileira (1992)2023
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Article in Revista da Associacao Medica Brasileira (1992), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Analysis of Flurothyl-induced Seizures and Epileptogenesis in Mice with Targeted Deletions of Exons 3 and 4 in Dock7.bioRxiv : the preprint server for biology · 2026Article
- Integrated Clinical, Molecular, and Machine Learning Assessment of Familial Hypercholesterolemia.Life (Basel, Switzerland) · 2026Article
- Genetics of epilepsy.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- Panel testing may not be sufficient to reveal the etiology of suspected genetic epilepsy.Revista da Associacao Medica Brasileira (1992) · 2024Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveChildhood epilepsy is a common neurological disorder with a prevalence of 300-600 cases per 100,000 people. It is associated with refractory epilepsies, global developmental delay, and epileptic encephalopathies, causing epileptic syndromes characterized by cognitive and behavioral disorders.
methodsIn this retrospective cohort study, patients with refractory epilepsy and global developmental delay, defined as epileptic encephalopathy, who applied to the Aydın 7Maternity and Children's Hospital Genetic Diagnosis Center and were followed in the pediatric neurology clinic of our hospital, between July 2018 and July 2021, were included.
resultsTargeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 DBH, 2 DOCK7, 1 FOLR1, 2 GABRB3, 2 GCH1, 1 VGRIN2B, 1 GUF1, 3 KCNQ2, 2 KCNT1, 1 NECAP1, 1 PCDH19, 1 PNPO, 1 SCN8A, 1 SCN9A, 4 SCN1A, 2 SLC25A22, 1 SLC2A1, 2 SPTAN1, 2 SZT2, 4 TBC1D24, 2 TH, and 1 PCDH19 (X chromosome) mutations were detected in three of the patients using the next-generation sequencing method.
conclusionAlthough the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.
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