Document Detail


Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature.
MedLine Citation:
PMID:  19902142     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.
Authors:
Komi Assogba; Edoardo Ferlazzo; Pasquale Striano; Tiziana Calarese; Nathalie Villeneuve; Ivan Ivanov; Placido Bramanti; Edoardo Sessa; Iliana Pacheva; Pierre Genton
Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2009-11-10
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  31     ISSN:  1590-3478     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-01-26     Completed Date:  2010-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  9-16     Citation Subset:  IM    
Affiliation:
Centre Saint-Paul, H?pital Henri Gastaut, Marseille, France.
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MeSH Terms
Descriptor/Qualifier:
Brain / physiopathology,  radiography
Child
Electroencephalography
Female
Humans
Hypopigmentation* / drug therapy,  physiopathology,  radiography
Retrospective Studies
Seizures* / drug therapy,  physiopathology,  radiography
Tomography, X-Ray Computed
Young Adult

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