MOLECULAR STUDY EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (SCN2A) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4069

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	60 days
Information:
Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of age-dependent encephalopathies, which include also West syndrome and Lennox-Gastaut syndrome. This rare syndrome is characterized by a very early onset, during the first months of life, with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. Partial motor seizures may occur. Brain imaging usually discloses gross structural abnormalities in the majority of cases. Metabolic disorders were present in a few cases. The course is severe with early death or marked psychomotor retardation and intractable seizures with frequent evolution to West syndrome.
Links:
OMIM Entry - # 613721 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
Orphanet- Early infantile epileptic encephalopathy
OMIM Entry - - 182390 - SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A

   Find the record of the test by clicking here