Neonatal and infantile epilepsy: Acquired and genetic models

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16 Scopus citations


The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods.We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome andmTORdysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the newinsights may potentially have curative or disease-modifying potential for many of these devastating conditions.

Original languageEnglish (US)
JournalCold Spring Harbor Perspectives in Medicine
Issue number1
StatePublished - Jan 2016

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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