2016DOAJ (DOAJ: Directory of Open Access Journals)Open access

KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE

N. Yu. Borovikova, К С Боровиков, К. Yu. Мukhin, М. Б. Миронов

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Abstract

Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examined

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What this paper is about

Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examined

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Available abstract

Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examined

Key concepts: Kabuki syndrome, Kabuki, Etiology, Epilepsy, Girl, Pediatrics, Medicine, Epilepsy syndromes

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