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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[West syndrome. A series of 31 cases]
M I Cebrero García1, R Simón de las Heras, F Mateos Beato
1Unidad de Neurología Infantil, Hospital 12 de Octubre, Madrid.
Abstract:
In this publish we analyze etiologic, clinic, electroencephalografic, radiologic, therapeutic and evolutionary facts of a serie of 31 children with diagnostic of West's syndrome. Advances in diagnostic methodes, overall of neuroimagen have allowed us to identify the etiology of 87% of cases, with a great variability of causes. The treatment with ACTH and/or anticonvulsive drugs was effective; although for children's prognostic, etiology and previous neurologic situation before initial symptomatology was more important. So, the clinical evolution was favorable for all criptogenetic cases and those secondary one with previous normal neurologic state. The rest, 70%, remained with mental delay, associated or no with crisis. Likewise the EEG persisted to be pathologic in 67.7% of cases. Five cases progressed towards Lennox-Gastaut's syndrome, that is to say, 16% of whole.
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