Milder phenotypes of glucose transporter type 1 deficiency syndrome
نویسندگان
چکیده
منابع مشابه
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy con...
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A 4-year-old girl, born to healthy non consanguineous parents after an uneventful pregnancy and delivery with normal birth weight, presented with history of absence seizures and ataxia since 7 months of age. Absence seizures and ataxia were worse in the fasting state. She was otherwise able to walk and run, and had a normal speech. On examination, she had microcephaly (head circumference 46 cm)...
متن کاملGABA Transporter-1 Deficiency Confers Schizophrenia-Like Behavioral Phenotypes
The mechanism underlying the pathogenesis of schizophrenia remains poorly understood. The hyper-dopamine and hypo-NMDA receptor hypotheses have been the most enduring ideas. Recently, emerging evidence implicates alterations of the major inhibitory system, GABAergic neurotransmission in the schizophrenic patients. However, the pathophysiological role of GABAergic system in schizophrenia still r...
متن کاملGene therapy for a mouse model of glucose transporter-1 deficiency syndrome
OBJECTIVE We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene was expressed under the synapsin I promoter (AAV-hSLC2A1) and examined if AAV-hSLC2A1 administration can lead to functional improvement in GLUT1-deficient mice. METHODS AAV-hSLC2A1 was injected into heterozygous knock-out murine Glut1 (GLUT1+/-) mice intraperitoneally (systemic; 1.85 × 1011 vg/mouse) ...
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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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2011
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2011.03949.x