Epilepsy Journal

Department of Pediatric Neurology, Tripoli University Hospital, Tripoli University, Tripoli, Libyan Arab Jamahiriya

Publications

• Case Report   
  An Overview of Early Infantile Epileptic Encephalopathy 75 (EIEE75) in Libyan Boy due to Novel Mutation of PARS2 Gene Comparing with Other Reported 8 Cases around the World
  Author(s): Samira A. Etarhuni*, Abdulbast Mahdi Sharfddin and Millad Alsaid Ghawil
  
  Background: Early infantile epileptic encephalopathy 75 (EIEE75) is a very rare form of epileptic encephalopathy due to mitochondrial disease, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Early infantile epileptic encephalopathy 75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. The aim of the study is to compare our clinical case with previous reported cases in aspect of clinical features, MRI finding and genetic finding, and to highlights the importance of WES analysis for the diagnosis of rare disease. Materials and Methods: The parents of our patient gave their written consent to carry out the investigations reported. One year old child product of consanguineous marriage prese.. Read More»
  

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