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Developmental and epileptic encephalopathies: Is prognosis related to different epileptic network dysfunctions?
Jainn-Jim Lin1, Stefano Meletti2, Anna Elisabetta Vaudano2
1Division of Pediatric Critical Care and Pediatric Neurocritical Care Center, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Graduate Institute of Clinical Medical Sciences, Chang Gung University, College of Medicine, Taoyuan, Taiwan; Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Department of Respiratory Therapy, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Study Group for Intensive and Integrated Care of Pediatric Central Nervous System (iCNS Group), Chang Gung Children's Hospital, Taoyuan, Taiwan.
Insights
Developmental and epileptic encephalopathies (DEEs) are severe epilepsies with refractory seizures and developmental issues. Recent research focuses on epileptic network dysfunction rather than just lesions, guiding holistic precision therapies.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Developmental and epileptic encephalopathies (DEEs) are rare, severe conditions presenting with refractory seizures and developmental delays or regression.
- While developmental changes can occur independently, epileptic activity often exacerbates cognitive and behavioral deficits.
- The understanding of DEEs is shifting from lesion-based to epileptic network dysfunction.
Purpose of the Study:
- To review the evolving concept of DEEs.
- To summarize the current knowledge on the genetic underpinnings of DEEs.
- To discuss the impact of epileptic network dysfunction on DEE prognosis.
Main Methods:
- Literature review of recent advancements in DEE research.
- Analysis of studies focusing on genetic etiologies.
- Examination of research on brain network function in DEEs.
Main Results:
- DEE concept evolution towards network dysfunction.
- Advancements in understanding genetic bases.
- Epileptic network dysfunction identified as a key prognostic factor.
Conclusions:
- Early recognition and differentiation are crucial for effective, holistic precision therapies in DEEs.
- Understanding genetic factors and network dysfunctions is key to improving patient outcomes.
- Focus on epileptic network dysfunction offers new therapeutic avenues for severe epilepsies.
Abstract:
Developmental and epileptic encephalopathies are a group of rare, severe epilepsies, which are characterized by refractory seizures starting in infancy or childhood and developmental delay or regression. Developmental changes might be independent of epilepsy. However, interictal epileptic activity and seizures can further deteriorate cognition and behavior. Recently, the concept of developmental and epileptic encephalopathies has moved from the lesions associated with epileptic encephalopathies toward the epileptic network dysfunctions on the functioning of the brain. Early recognition and differentiation of patients with developmental and epileptic encephalopathies is important, as precision therapies need to be holistic to address the often devastating symptoms. In this review, we discuss the evolution of the concept of developmental and epileptic encephalopathies in recent years, as well as the current understanding of the genetic basis of developmental and epileptic encephalopathies. Finally, we will discuss the role of epileptic network dysfunctions on prognosis for these severe conditions.
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