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asparagine/epileptisk anfald
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Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.
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Asparagine synthetase deficiency is an autosomal recessive neurometabolic disorder characterized clinically by severe congenital microcephaly, global developmental delay, intractable epilepsy, and motor impairment in the form of spastic quadriparesis. Diagnosis is confirmed by findings of low
On the efficacy of asparagine, glutamine, gamma-aminobutyric acid and 1-pyrroiidinone in preventing chemically induced seizures in mice.
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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
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Altered amino acid levels in multiply affected sibships with seizures.
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Evidence of genetic factors in seizure disorders by examination of plasma amino acid concentrations in multiply affected sibships was investigated. The strategy of multiply affected sibship ascertainment was used to reduce heterogeneity as one of several potential sources of variation in
Effect of 6-hydroxydopamine on brain and blood catecholamine, ammonia, and amino acid metabolism in rats subjected to high pressure oxygen induced convulsions.
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Effects of 6-hydroxydopamine (6-OHDA) on rat brain and blood adrenaline (A), noradrenaline (NA), ammonia (NH3), gamma-aminobutyric acid (GABA), and amino acid metabolism prior to and after high pressure oxygen (OHP) induced convulsions have been studied. 6-OHDA reduces GABA and glutamate (Glu) rior
Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency.
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Asparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development,
Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.
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Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease in asparagine in
Neuroprotective actions of PIKE-L by inhibition of SET proteolytic degradation by asparagine endopeptidase.
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Ischemia and seizure cause excessive neuronal excitation that is associated with brain acidosis and neuronal cell death. However, the molecular mechanism of acidification-triggered neuronal injury is incompletely understood. Here, we show that asparagine endopeptidase (AEP) is activated under acidic
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.
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In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of
Inhibitory and excitatory amino acids in CSF of patients suffering from complex partial seizures during chronic treatment with gamma-vinyl GABA (vigabatrin).
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The effect of chronic administration of gamma-vinyl GABA (GVG; vigabatrin) on levels of neurotransmission-related amino compounds was studied in lumbar cerebrospinal fluid of 65 patients with complex partial epilepsy. The first sample of cerebrospinal fluid was taken before a 3-month period of
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
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OBJECTIVE
Early onset familial Alzheimer disease (EOFAD) can be caused by mutations in genes for amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 (PSEN2). There is considerable phenotypic variability in EOFAD, including some patients with spastic paraparesis. The objective is to
Brain development in neonatal rats nursing asparagine-deprived dams.
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A possible requirement for dietary asparagine during lactation was investigated by measuring any adverse effect of maternal asparagine deprivation on the body growth and brain development of nursing rat pups. Each dam was given 7 pups to nurse. Three groups of 5 dams each were deprived from the 1st
ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity.
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ALG13 (asparagine-linked glycosylation 13 homolog) encodes a crucial protein involved in the process of N-linked glycosylation, and abnormal N-linked glycosylation is considered an important risk factor that leads to neurological deficits and disorders. However, the causal relationship between ALG13
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
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Asparagine Synthetase Deficiency is a recently described cause of profound intellectual disability, marked progressive cerebral atrophy and variable seizure disorder. To date there has been limited functional data explaining the underlying pathophysiology. We report a new case with compound
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
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Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. It manifests with a severe neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity and refractory seizures. To date,
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