glycolipid/seizures

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Effect of insulin-induced epileptic seizures on neutral glycolipids of rabbit cerebral cortex.

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The neutral glycolipids of rabbit central cortex were analyzed during epileptic seizures produced by insulin or pentetrazol injection. The two agents gave similar results. A decrease of glycolipid content occurred in the cortex and in the neuronal fraction during seizures. The normal glycolipid

Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation.

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A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures

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Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is involved in a number of biochemical processes

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

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Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

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Glycosylphosphatidylinositol (GPI) anchoring is a special type of protein posttranslational modification, by which proteins with diverse function are attached to cell membrane through a covalent linkage between the protein and the glycolipid. Phosphatidylinositol glycan anchor biosynthesis class A

Differential expression of mRNAs for sialyltransferase isoenzymes induced in the hippocampus of mouse following kindled seizures.

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Sialic acids play important roles in various biological functions. In the brain, evidence suggests that sialylation of glycoproteins and glycolipids affects neural plasticity. While the 18 sialyltransferase isoenzymes (STs) identified to date synthesize individual sialyl-oligosaccharide structures,

[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected].

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In some inherited metabolic diseases, in particular in urea cycle disorders, which are usually diagnosed in neonatal period or in childhood, vomiting is often the first symptom. We report a case of late revelation of urea cycle disorder in a 13 years old female patient hospitalized for convulsions

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

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Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs),

Platelets promote epileptic seizures by modulating brain serotonin level, enhancing neuronal electric activity, and contributing to neuroinflammation and oxidative stress.

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The drugs currently available for treating epilepsy are only partially effective in managing this condition. Therefore, it is crucial to investigate new pathways that induce and promote epilepsy development. Previously, we found that platelets interact with neuronal glycolipids and actively secrete

Anesthetic considerations in the child with Gaucher disease.

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We present the case of a 7-month-old girl with Gaucher disease who required anesthetic care during laryngoscopy, bronchoscopy, and central line placement. Gaucher disease is a familial disorder of lipid catabolism with autosomal recessive inheritance. Due to the defective function of the enzyme

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

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OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. METHODS Review of medical records. METHODS Specialized Genetic Center. METHODS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for

Resin glycosides evoke the Gaba release by sodium- and/or calcium-dependent mechanism.

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Ipomoea tyrianthina Lindley (syn. I. orizabensis Pelletan, Lebed. ex Steud., Convolvulaceae) is known as a purgative, but it has been also used in Mexican traditional medicine in the treatment of seizures and pain for their anticonvulsive, hypnotic and sedative properties. Some glycolipids isolated

Resin glycosides from the roots of Ipomoea tyrianthina and their biological activity.

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Seven new tetrasaccharide glycosides, tyrianthins 1-7 (1-7), along with six known glycolipids were isolated from the roots of Ipomoea tyrianthina, and their structures were elucidated by spectroscopic and chemical methods. The content of resin glycosides in samples collected in three different

Phenotypic spectrum of fucosidosis in Tunisia.

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Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis

Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.

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Gaucher disease is an inherited lysosomal storage disorder caused by mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase. Inadequate enzymatic activity causes cells to become engorged due to an accumulation of glycolipids. Engorged cells then accumulate in various organs,

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