Article
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
Brain : a journal of neurology - 1 Oct 2010
Kurian Manju A, Meyer Esther, Vassallo Grace, Morgan Neil V, Prakash Nandhini, Pasha Shanaz, Hai Nebula A, Shuib Salwati, Rahman Fatima, Wassmer Evangeline, Cross J Helen, O'Callaghan Finbar J, Osborne John P, Scheffer Ingrid E, Gissen Paul, Maher Eamonn R
Abstract excerpt
The epileptic encephalopathies of infancy and childhood are a collection of epilepsy disorders characterized by refractory, severe seizures and poor neurological outcome, in which the mechanism of disease is poorly understood. We report the clinical presentation and evolution of epileptic encepha...
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