Treatable GLUT 1 Deficiency Chorea Syndrome
نویسندگان
چکیده
منابع مشابه
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
PURPOSE To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS). METHODS Twenty children with clinical and laboratory features of Glut-1 DS were evaluated. Age at seizure diagnosis, seizure classification, and response to treatment were determined by chart review. Thirty-two continuous 24-h EEG monitoring sessions and re...
متن کاملGlut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut-1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype-phenotype correlation,...
متن کاملA Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
BACKGROUND Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic ...
متن کاملGlucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients...
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Alpha-1 antitrypsin deficiency is common but underrecognized. Because delayed diagnosis is thought to be associated with adverse outcomes, clinicians are encouraged to follow available guidelines and test for the disease in all symptomatic adults with fixed airflow obstruction. The weight of available evidence supports the biochemical and clinical efficacy of intravenous augmentation therapy. P...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2010
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-24-1-3