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Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.

Revista da Associacao Medica Brasileira (1992) - 1 Jan 2023

Bariş Savaş, Kırık Serkan, Balasar Özgür

Abstract excerpt

OBJECTIVE: Childhood 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. METHODS: In this retrospective cohort study, patients with refractory epilepsy and global developmental delay,...

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Child
Epilepsy
Genotype
High-Throughput Nucleotide Sequencing
Mitochondrial Membrane Transport Proteins

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PMID: 37820178
DOI: 10.1590/1806-9282.20230547
PMCID: PMC10561910

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