| Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. | |
| | |
MedLine Citation:
|
PMID: 21515089 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. The POLG1-related syndrome has a variable clinical course, and disease morbidity and mortality may be correlated with the genotype. |
| | |
Authors:
|
David Roshal; David Glosser; Andro Zangaladze |
Related Documents
:
|
20930359 - Cowden syndrome. 8316319 - A questionnaire survey of midwest dermatologists on the clinical-genetic aspects of pat... 10208079 - Elongated stylohyoid process: a report of three cases. 7328099 - Separating pena-shokeir i syndrome from the "arthrogryposis basket". 3497719 - The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. 15356469 - A case of neurofibromatosis-noonan syndrome with a central giant cell granuloma. 8579979 - Eosinophilia-myalgia syndrome, toxic-oil syndrome, and diffuse fasciitis with eosinophi... 16763219 - Brainstem anomalies in two patients affected by congenital central hypoventilation synd... 9083309 - Intrauterine growth and ultrasound findings in fetuses with beckwith-wiedemann syndrome. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-4-22 |
Journal Detail:
|
Title: Epilepsy & behavior : E&B Volume: - ISSN: 1525-5069 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-4-25 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 100892858 Medline TA: Epilepsy Behav Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Elsevier Inc. All rights reserved. |
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: Rigid-body point-based registration: The distribution of the target registration error when the fidu...
Next Document: Conditioned Place Preference Reveals Tonic Pain in an Animal Model of Central Pain.