A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.

CONCLUSIONS: This mutation caused instability of the mutant transporter protein, which resulted in reduced cell surface and total protein levels. The mutation also caused reduced GABA uptake in addition to reduced protein expression, leading to reduced GABA clearance, and altered GABAergic signaling in the brain. The impaired trafficking and reduced GABA uptake function may explain the epilepsy phenotype in the patient. PMID: 31176687 [PubMed - as supplied by publisher]
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research

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Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Children and Teens Family General Inside Schizophrenia Mental Health and Wellness Parenting Bipolar disorder and schizophrenia Family Mental Health family mental illness Helping Families in Mental Health Crisis life with schizophrenia Source Type: blogs
This study will evaluate the health care costs and utilization of individuals during their first year of enrollment in HOME and identify factors associated with higher cost and utilization. Secondary analysis of claims data were used to identify cost and utilization. Generalized linear regression and negative binomial regression were used to calculate utilization and cost. The mean total cost of care during the initial year of enrollment (n=239) per individual was $11,095.87, with $4,640.83 attributed to inpatient care. Those with diabetes (p=0.01), epilepsy (p=0.02), or mood disorders (p=0.03) were more likely to be admit...
Source: Journal of Health Care for the Poor and Underserved - Category: International Medicine & Public Health Authors: Tags: J Health Care Poor Underserved Source Type: research
We describe a boy with an SLC6A1 mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of myoclonic-atonic epilepsy with brief absence seizures that have appeared during the follow-up, responsive to valproic acid.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
This article is part of the Special Issue “Seizures &Stroke”
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
This article is part of the Special Issue "Seizures &Stroke". PMID: 31427267 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Abstract Epilepsy surgery offers the chance of seizure remission for the 30%-40% of patients with focal epilepsy whose seizures continue despite anti-epileptic medications. Epilepsy surgery encompasses curative resective procedures, palliative techniques such as corpus callosotomy and implantation of stimulation devices. Pre-surgical evaluation aims to identify the epileptogenic zone and to prevent post-operative neurological and cognitive deficits. This entails optimal imaging, prolonged video-electroencephalogram (EEG) recordings, and neuropsychological and psychiatric assessments; some patients may then require...
Source: Practical Neurology - Category: Neurology Authors: Tags: Pract Neurol Source Type: research
Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations. In-depth metabolic studies in individual 1 showed low plasma serine, hypercitrullinemia, hyperlactatemia, and hyperammonemia. The epilepsy was serine and pyridoxine responsive.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
ConclusionOur results indicate thatCNKSR2 nonsense variants in the C ‐terminal coding part can result in ID with seizures in female variant carriers.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
This article is part of the Special Issue "Proceedings of the 7th London-Innsbruck Colloquium on Status Epilepticus and Acute Seizures"
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSIONS: In 2014, there were 28,212,820 (2.02% AIS and 5.50% LDs) hospitalizations. LDs patients had higher prevalence and odds of having AIS compared with non-LDs. Between 2003-2014, of the total 4,224,924 AIS hospitalizations, 451,645 (10.69%) had LDs. Patients with LDs had lower percentages and odds of mortality, risk of death, major/extreme disability, discharge to nursing facility, and complications including epilepsy, stroke-associated pneumonia, GI-bleeding and hemorrhagic-transformation compared to non-LDs. Although LDs are risk factors for AIS, concurrent LDs in AIS is not only associated with lower mortality ...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
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