Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs

<p><strong>Background:</strong> Epilepsy, a chronic neurological disorder affecting over 50 million people worldwide, is marked by recurrent seizures and loss of consciousness. It is categorized based on EEG features, etiologies, and comorbidities. Developmental Encephalopathy (DE) involves developmental delays and early-onset seizures without causing developmental regression. In contrast, Epileptic Encephalopathy (EE) features severe epilepsy syndromes where frequent seizures result in developmental delays or regression.</p><p><strong>Methods:</strong> This review explores the clinical definitions, epidemiology, and diagnostic criteria for DE, EE, and DEEs. It covers their etiologies, clinical features, diagnostic methods, and treatment strategies, including genetic, structural, metabolic, and immune-related factors.</p><p><strong>Results:</strong> DE features developmental impairment with epilepsy, while EE involves severe epilepsy causing cognitive and behavioral dysfunction. DEEs are marked by early-onset severe epilepsy and EEG abnormalities that worsen developmental impairments. Essential diagnostic tools include EEG, neuroimaging, and genetic testing. Effective management requires personalized interventions to control seizures and address cognitive deficits.</p><p><strong>Conclusion:</strong> DEEs are a complex epilepsy subset with major developmental and cognitive challenges. Early diagnosis and targeted treatments are crucial for improving outcomes. Ongoing research into DEEs' genetic and pathophysiological mechanisms is key to enhancing understanding and management.</p>

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Publication Details

Journal
Medicinus
Published
2024-09-19
DOI
https://doi.org/10.19166/med.v13i3.8882
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
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article

Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs

Evlyne Erlyana Suryawijaya, Shania Lokito
Medicinus
Genetics and Neurodevelopmental Disorders
article

Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs

Evlyne Erlyana Suryawijaya, Shania Lokito
article en

Abstract

<p><strong>Background:</strong> Epilepsy, a chronic neurological disorder affecting over 50 million people worldwide, is marked by recurrent seizures and loss of consciousness. It is categorized based on EEG features, etiologies, and comorbidities. Developmental Encephalopathy (DE) involves developmental delays and early-onset seizures without causing developmental regression. In contrast, Epileptic Encephalopathy (EE) features severe epilepsy syndromes where frequent seizures result in developmental delays or regression.</p><p><strong>Methods:</strong> This review explores the clinical definitions, epidemiology, and diagnostic criteria for DE, EE, and DEEs. It covers their etiologies, clinical features, diagnostic methods, and treatment strategies, including genetic, structural, metabolic, and immune-related factors.</p><p><strong>Results:</strong> DE features developmental impairment with epilepsy, while EE involves severe epilepsy causing cognitive and behavioral dysfunction. DEEs are marked by early-onset severe epilepsy and EEG abnormalities that worsen developmental impairments. Essential diagnostic tools include EEG, neuroimaging, and genetic testing. Effective management requires personalized interventions to control seizures and address cognitive deficits.</p><p><strong>Conclusion:</strong> DEEs are a complex epilepsy subset with major developmental and cognitive challenges. Early diagnosis and targeted treatments are crucial for improving outcomes. Ongoing research into DEEs' genetic and pathophysiological mechanisms is key to enhancing understanding and management.</p>

MedicinusVol. 13(3)
Pelita Harapan University (ID)
Openalex Percentile: Top 80%
Genetics and Neurodevelopmental Disorders
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Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs — Evlyne Erlyana Suryawijaya, Shania Lokito · Medicinus (2024) | TGRS Research Map | TGRS