Abstract:Epilepsy is one of the most common neurological diseases of developmental ages, and epileptic encephalopa thy is one of its most severe forms. The RNF6 gene encodes a protein that is a ubiquitin ligase. It has been associated so far mainly with the development of neoplastic diseases. We present a case of a 3.5yearold girl with epileptic encephalopathy and deletion 13q. The patient has been suffering from seizures since in fancy. Therapy with 3 antiepileptic drugs and the ketogenic diet reduced the frequency of… Show more
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