Epilepsy Journal

Department of Medical Research, Tungs Taichung Metrohabor Hospital, Taiwan

Publications

• Case Series   
  Epileptic Encephalopathy: Case Series
  Author(s): Hueng Chuen*
  
  Extreme cases of intractable childhood epilepsy might culminate in an illness called epileptic encephalopathy. Along with being fatal in certain instances, the illness can result in significant delays in the development of cognitive, sensory, and motor functions. Early infantile SCN8A encephalopathy is associated with missense mutations in SCN8A, which encodes Nav1.6, a key subunit of the voltage-gated sodium channel in neurons and muscles. In this case report, we describe a 5-month-old child who has a new missense mutation associated with SCN8A encephalopathy. The findings of blood and metabolic testing, electroencephalogram (EEG), and brain magnetic resonance imaging (MRI), with the exception of uncontrollable seizures and autistic characteristics, were all normal. Genetic sequencing should be taken into consideration to determine the underlying genetic origi.. Read More»
  DOI: 10.37421/2472-0895.2022.8.170

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