[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].

Abstract excerpt

BACKGROUND: Molecular studies allow to study background of many epilepsy types but qualification for genotyping is not easy, especially in initial stages of severe encephalopathy in newborns and infants. One of them is a type 2 severe epileptic encephalopathy (EIEE2), caused by dominant mutation in CDKL5 gene (Xp22.3). In this type of encephalopathy appearing mainly in females, treatment resistant epileptic...

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