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American Academy of Pediatrics
Article

Genetic Etiologies of Neonatal Seizures

Shagun Kaur and Kara Pappas
NeoReviews October 2020, 21 (10) e663-e672; DOI: https://doi.org/10.1542/neo.21-10-e663
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Shagun Kaur
*Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, MI
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Kara Pappas
*Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, MI
†Department of Pediatrics, Central Michigan University, Mt Pleasant, MI
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  • Abbreviations:
    ACC:
    agenesis of the corpus callosum
    AEDs:
    antiepileptic drugs
    CSF:
    cerebrospinal fluid
    EEG:
    electroencephalography
    GABA:
    γ-aminobutyric acid
    IEM:
    inborn error of metabolism
    MRI:
    magnetic resonance imaging
    PLP:
    pyridoxal phosphate
  • Abstract

    Neonates presenting with seizures are frequently assessed and managed by neonatologists in the NICU. Although hypoxic-ischemic encephalopathy and infection are common underlying causes of neonatal seizures, many patients with neonatal epilepsy will have an identifiable genetic etiology. Often these cases will be evaluated in collaboration with a geneticist. The categories of genetic causes of neonatal seizures include 1) structural brain malformations; 2) inborn errors of metabolism; 3) syndromic; and 4) nonsyndromic, single gene. Evaluation of these patients involves a comprehensive history and examination, followed by appropriate investigations and diagnostic genetic testing. Components of the diagnostic process will vary based on the clinical suspicion and differential diagnoses. In certain cases, syndromic surveillance for evaluation of other congenital anomalies may be recommended. Determination of the underlying genetic diagnosis, when present, will have important implications for treatment. Targeted therapies are currently available for specific genetic syndromes, and outcomes may improve with earlier initiation of therapy. Certain genetic diagnoses may also have guideline-based management involving screening for other manifestations of the disorder.

    • Copyright © 2020 by the American Academy of Pediatrics

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    NeoReviews
    Vol. 21, Issue 10
    1 Oct 2020
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    Genetic Etiologies of Neonatal Seizures
    Shagun Kaur, Kara Pappas
    NeoReviews Oct 2020, 21 (10) e663-e672; DOI: 10.1542/neo.21-10-e663

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    Genetic Etiologies of Neonatal Seizures
    Shagun Kaur, Kara Pappas
    NeoReviews Oct 2020, 21 (10) e663-e672; DOI: 10.1542/neo.21-10-e663
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      • Abstract
      • Practice Gaps
      • Objectives
      • Introduction
      • Types of Neonatal Seizure Disorders
      • Investigational Approach
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