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Article

Ohtahara syndrome with emphasis on recent genetic discovery.

Brain & development - 1 Jun 2012

Pavone Piero, Spalice Alberto, Polizzi Agata, Parisi Pasquale, Ruggieri Martino

Abstract excerpt

Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures...

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Source

Identifiers

PMID: 21967765
DOI: 10.1016/j.braindev.2011.09.004

Genes

ARX
CDKL5

Provenance

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