Document Detail


Ohtahara syndrome with emphasis on recent genetic discovery.
MedLine Citation:
PMID:  21967765     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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 and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders.
Authors:
Piero Pavone; Alberto Spalice; Agata Polizzi; Pasquale Parisi; Martino Ruggieri
Related Documents :
2398525 - Molecular cloning and characterization of a cdna for a novel phorbol-12-myristate-13-ac...
18096415 - Gene expression profiling for improved dissection of acute leukemia: a recently identif...
10595755 - The role of chromosome translocations in leukemogenesis.
12543865 - Induction of acute myeloid leukemia in mice by the human leukemia-specific fusion gene ...
21625565 - Defuse: an algorithm for gene fusion discovery in tumor rna-seq data.
17391405 - Gene expression polymorphism in drosophila populations.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-1
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011. Published by Elsevier B.V.
Affiliation:
Department of Pediatrics and Pediatric Emergency "Costanza Gravina", University Hospital "Vittorio Emanuele-Policlinico", Catania, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Considerations on BVD eradication for the Irish livestock industry.
Next Document:  Regulation of neutrophils by interferon-? limits lung inflammation during tuberculosis infection.