Department of Medical Research, Tungs Taichung Metrohabor Hospital, Taiwan
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
Epilepsy Journal received 41 citations as per Google Scholar report