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Published on: June 11, 2020
[Neonatal epileptics syndromes]
Graciela Del Pilar Guerrero Ruiz1
1Servicio de Neuropediatría, Hospital Militar Central, Universidad Militar Nueva Granada, Bogotá, Colombia.
Insights
Neonatal epileptic syndromes, including self-limited and early infantile epileptic and developmental encephalopathies (EIDEE), require early recognition. Understanding their distinct clinical courses and genetic underpinnings guides diagnosis and treatment.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Context:
- Neonatal seizures are a significant concern in newborns.
- Genetic and metabolic epilepsies form a subset of these seizures.
- Early identification of neonatal epileptic syndromes is crucial for effective management.
Purpose:
- To review the electroclinical phenotypes of neonatal epileptic syndromes.
- To detail commonly implicated genes and their associated clinical manifestations.
- To outline diagnostic strategies and current treatment recommendations.
Summary:
- Neonatal epileptic syndromes are categorized into self-limited types and early infantile epileptic and developmental encephalopathies (EIDEE).
- Self-limited syndromes typically resolve early with normal development, though some may have later complications.
- EIDEE syndromes often present with treatment-refractory seizures impacting neurodevelopment.
Impact:
- Improved diagnostic accuracy for neonatal epileptic syndromes.
- Enhanced understanding of the genetic basis of these conditions.
- Guidance for tailored therapeutic interventions in affected infants.
Abstract:
Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.
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