Glut-1 Deficiency Syndrome and Familial Epilepsy
نویسندگان
چکیده
منابع مشابه
GLUT1 deficiency: a glut of epilepsy phenotypes.
Neurology 2012;78:524–525 The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and juvenile myocloni...
متن کاملSeizure 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 کاملFamilial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria.
OBJECTIVES Myoclonic epilepsy (ME) syndrome is not rare in north-eastern Europe; it is also seen in various forms. Familial occurrence of ME syndrome and acute intermittent porphyria (AIP) was observed in three siblings. The following report was aimed the differentiation between co-morbidity of two different disorders or presence the epileptic seizures within the clinical picture of latent AIP....
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2001
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-15-10-2