Genotypes and phenotypes of patients with Lafora disease living in Germany
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Genotypes and phenotypes of patients with Lafora disease living in Germany
Background: LaFora progressive myoclonus epilepsy (LaFora disease) is usually time-onset, fatal neurodegenerative disease caused by a mutation rare biallelic in EPM2A (Laforin) or EPM2B (NHLRC1, Malin). LaFora disease epidemiology in Germany largely unknown. The aim of this retrospective case series was to characterize genotypes and phenotypes of patients with diseases LaFora living in Germany.
Methods: The patient described in this case a series of an initial clinical diagnosis is suspected LaFora disease, or unclassified progressive myoclonus epilepsy. Molecular genetic diagnostics, including next generation sequencing-based diagnostic panel analysis or whole exome sequencing is done.
Results: Parents of four of the 11 patients nonconsanguineous and German origin, while other patients have parents relatives. Various variants found in EPM2A (six patients) and in EPM2B (five patients). Eight variants have not been reported in the literature so far. The patients bearing a new variant has a typical onset during adolescence and show classic disease course.
Conclusion: This is the first case of a larger series of patients LaFora in Germany. Our data allows real LaFora prevalence estimates in Germany for 1.69 per 10 million people. wider application of gene panels or whole exome diagnostics help clarify unclassified progressive myoclonus epilepsy and establish an early diagnosis, which will become more important as a causal therapy approaches have been developed and will soon be tested in a phase I study
EPM2A has been certified as the causative gene in patients with LaFora disease (LD), which is an autosomal recessive rare and severe form of progressive myoclonus epilepsy. The classic LD begins in adolescence, characterized by various types of seizures with myoclonic seizures as main types. Usually within 10 years, harsh seizures, fast developing dementia and vegetative state is present. LD especially common in Mediterranean countries.
Here, we report the Chinese family with a new compound heterozygous mutations in the genes EPM2A, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline.
Genotypes and phenotypes of patients with Lafora disease living in Germany
brain proton magnetic resonance spectroscopy findings in Beagle dogs with genetically confirmed LaFora disease.
have identified cortical atrophy using magnetic resonance imaging (MRI) in humans and dogs with LaFora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicating a drop of N-acetyl-aspartate (NAA) relative to other brain metabolites. 1HMRS brain findings in dogs with LD less.
A 6 year old Beagle woman presented with a history of general tonic-clonic seizures, and myoclonus reflex single episodic. Clinical, hematological, and neurological examination findings and 3-Tesla MRI of the brain that is mediocre. 1HMRS brain with voxel position in the thalamus do in Beagle affected.
Description: ETC-1002 is an oral ACL inhibitor (IC50= 29 ?M) and AMPK activator. In vitro, ETC-1002 increased levels of AMP-activated protein kinase (AMPK) phosphorylation, reduced activity of MAP kinases and decreased production of proinflammatory cytokines and chemokines.
Description: ETC-1002 is an oral ACL inhibitor (IC50= 29 ?M) and AMPK activator. In vitro, ETC-1002 increased levels of AMP-activated protein kinase (AMPK) phosphorylation, reduced activity of MAP kinases and decreased production of proinflammatory cytokines and chemokines.
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep)
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Kit in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Kit in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Brucella Kit in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), APC
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with APC.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), Biotinylated
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with Biotin.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), Cy3
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with Cy3.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), FITC
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with FITC.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), HRP
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with HRP.
Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), PE
Description: A Rabbit polyclonal antibody against Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep Glucagon Like Peptide 1 (GLP1). This antibody is labeled with PE.
Tween-20 (100%, undiluted) for ELISA, Western, IP etc
Description: Quantitative sandwich ELISA for measuring Sheep Antibody against Foot and Mouth Disease IgM (FMDV-IgM) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Sheep Antibody against Foot and Mouth Disease IgM (FMDV-IgM)
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ELISA kit for Sheep Antibody against Foot and Mouth Disease IgM (FMDV-IgM)
Description: Quantitative sandwich ELISA for measuring Sheep Antibody against Foot and Mouth Disease IgM (FMDV-IgM) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Cas9 SmartNuclease Extra Ligation Kit [includes 5x ligation buffer (10 ul) and Fast ligase (2.5ul)]
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine tetanus antibody in samples from serum, plasma, tissue homogenates and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Brucella Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Theileria Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Theileria Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Glucagon Like Peptide 1 (GLP1) Polyclonal Antibody (Human, Mouse, Rat, Guinea pig, Dog, Pig, Bovine, Sheep), APC-Cy7
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Description: Quantitative sandwich ELISA for measuring Sheep Progesterone (PROG) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Prolactin (PRL) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Prolactin (PRL) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Melatonin (MT) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Myoglobin (MB) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Decorin (DCN) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Haptoglobin (HP) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Myeloperoxidase (MPO) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Adiponectin (ADIPOQ) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Adiponectin (ADIPOQ) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Sheep Thyroxine (T4) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Sheep Thyroxine (T4) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Enzyme-linked immunosorbent assay kit for quantification of Sheep Albumin (Alb)ELISA Kit in samples from serum, plasma, tissue homogenates and other biological fluids.
ELISA kit for Pig Foot and Mouth Disease Virus 3ABC Antibody
Description: Quantitative sandwich ELISA for measuring Pig Foot and Mouth Disease Virus 3ABC Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Pig Foot and Mouth Disease Virus 3ABC Antibody
Description: Quantitative sandwich ELISA for measuring Pig Foot and Mouth Disease Virus 3ABC Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Pig Foot and Mouth Disease Virus 3ABC Antibody
Description: Quantitative sandwich ELISA for measuring Pig Foot and Mouth Disease Virus 3ABC Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Sheep Anti-toxoplasmosis (IgM) Antibody
Description: Quantitative sandwich ELISA for measuring Sheep Anti-toxoplasmosis (IgM) Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Sheep Anti-toxoplasmosis (IgM) Antibody
Description: Quantitative sandwich ELISA for measuring Sheep Anti-toxoplasmosis (IgM) Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Sheep Anti-toxoplasmosis (IgM) Antibody
Description: Quantitative sandwich ELISA for measuring Sheep Anti-toxoplasmosis (IgM) Antibody in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Cortisol in samples from serum, plasma, tissue homogenates and other biological fluids.
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Eotaxin in samples from serum, plasma, tissue homogenates and other biological fluids.
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Erythropoietin in samples from serum, plasma, tissue homogenates and other biological fluids.
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Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Lactoperoxidase in samples from serum, plasma, tissue homogenates and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Bovine Herpesvirus in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Herpesvirus in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Herpesvirus in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Estrogen in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Estrogen in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Estrogen in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Bovine Neospora in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Neospora in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Rabies in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Rabies in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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Description: Quantitative sandwich ELISA for measuring Bovine Leptospiriosis in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
Description: Quantitative sandwich ELISA for measuring Bovine Leptospiriosis in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Bovine Signal transducer and activator of transcription 5A
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Signal transducer and activator of transcription 5A in samples from serum, plasma, tissue homogenates and other biological fluids.
ELISA kit for Bovine Signal transducer and activator of transcription 3
Description: Enzyme-linked immunosorbent assay kit for quantification of Bovine Signal transducer and activator of transcription 3 in samples from serum, plasma, tissue homogenates and other biological fluids.
ELISA kit for Bovine Cysteine and histidine-rich protein 1 (CYHR1)
Description: Quantitative sandwich ELISA for measuring Bovine Cysteine and histidine-rich protein 1 (CYHR1) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Bovine Cysteine and histidine-rich protein 1 (CYHR1)
Description: Quantitative sandwich ELISA for measuring Bovine Cysteine and histidine-rich protein 1 (CYHR1) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
ELISA kit for Bovine Cysteine and histidine-rich protein 1 (CYHR1)
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Description: A competitive ELISA for quantitative measurement of Canine Anti centriole and centrosome antibody in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
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Description: A competitive ELISA for quantitative measurement of Canine Anti centriole and centrosome antibody in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
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Description: Quantitative sandwich ELISA for measuring Bovine Albumin Kit in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.
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It identified a decrease in the number of NAA, glutamate-glutamine complex, and an increase in the amount of choline and phosphoethanolamine relative to water and the amount of creatine in comparison with the reference interval in healthy control beagles. A further genetic testing confirmed LD. Abnormalities in 1HMRS despite the lack of change with conventional MRI identified in dogs with LD.
