What is the role of genetic disorders in the etiology of neonatal seizures?

Updated: Jul 31, 2019
  • Author: Raj D Sheth, MD; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Answer

"Early-onset epileptic encephalopathy" refers to a syndrome in which seizures are refractory to medications and severe cognitive/developmental issues are present. In those patients in whom structural and metabolic causes have been ruled out, genetic mutations are increasingly recognized. These mutations occur in genes that code for ion channel subunits (such as SCN1A, SCN8A, KCNT1) and other nueronal proteins and enzymes (such as CDKL5, STXBP1). [5]

 


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