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EGAS00001000421-sc-20130814 - samples

ABSTRACT: We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

PROVIDER: EGAD00001000647 | EGA |

REPOSITORIES: EGA

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Paroxysmal Neurological Disorders rare epilepsies

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

| EGAS00001000421 | EGA

Paroxysmal Neurological Disorders 2

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

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Paroxysmal neurological disorders

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

| EGAS00001000048 | EGA

EGAS00001000386-sc-20130520 - samples

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

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EGAS00001000190-sc-20130520 - samples

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

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Paroxysmal neurological Disorders

Project description:We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

| EGAS00001000386 | EGA

Localized Proteomic Differences in Choroid Plexus of Alzheimers Disease and Epilepsy Patients

Project description:Alzheimers disease and epilepsy are reciprocally related. Among sporadic AD patients, seizures occur in 10-22 percent, and subclinical epileptiform abnormalities occur in 22-5 percent. Cognitive deficits, with prominent short-term memory impairments, occur in most epilepsy patients. Common neurophysiological and molecular mechanisms occur in AD and epilepsy. Emerging evidence identifies choroid plexus pathological changes in aging, AD, and epilepsy. These include decreased CSF turnover, A-beta and tau accumulation with impaired clearance, and disrupted CSF amino acid homeostasis; this pathology may contribute to synaptic dysfunction in AD and epilepsy. We found altered signaling pathways in the choroid plexus of severe AD cases and many correlated changes in protein expression of cell metabolism pathways in AD and epilepsy cases. Shared molecular mechanisms should be investigated further to distinguish pathogenic from secondary changes. This could inform novel therapeutic strategies to prevent disease progression or restore normal function. Focusing on dual-diagnosed AD/epilepsy cases, specific epilepsy syndromes like temporal lobe epilepsy, and changes across different severity levels in AD and epilepsy would significantly add to our understanding.

2023-02-27 | MSV000091370 | MassIVE

EGAS00001000048-sc-20120215 - samples

Project description:Paroxysmal neurological disorders

| EGAD00001000108 | EGA

EGAS00001000048-sc-20110602 - samples

Project description:Paroxysmal neurological disorders

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Single cell RNA-seq of seizure-affected brain tissue with mosaic copy number gain of chromosome 1q

Project description:Somatic mosaicism is a known cause of neurological disorders, including developmental brain malformations and epilepsy. Brain mosaic copy number gain of chromosome 1q is associated with cortical malformations, early-onset epilepsy, and developmental delay. Pathogenic brain mosaicism is traditionally attributed to post-zygotic genetic alterations arising in a neural progenitor cell during fetal development. However, in our cohort, in at least five of six patients with brain mosaic copy number gain of chromosome 1q, the alteration occurred pre-conception. We observed a third non-constitutive, but parentally-derived, haplotype for chromosome 1q in patient brain tissue, demonstrating that the copy number alteration occurred in a gamete pre-conception. The altered cells had no representation in parental buccal or proband blood or buccal samples, but were prominently observed in proband brain tissue, suggesting the copy number gain was lost in most cell lineages during embryonic development. Single-nuclei genotyping coupled with gene expression profiling revealed a strong enrichment of the chromosome 1q gain in astrocytes, which correlated with the unusual finding of hyaline astrocytic inclusions in all six cases.

2023-09-08 | GSE221849 | GEO

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