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Paroxysmal neurological disorders

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 the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

PROVIDER: EGAS00001000048 | EGA |

REPOSITORIES: EGA

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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Dejanovic Borislav B Djémié Tania T Grünewald Nora N Suls Arvid A Kress Vanessa V Hetsch Florian F Craiu Dana D Zemel Matthew M Gormley Padhraig P Lal Dennis D Myers Candace T CT Mefford Heather C HC Palotie Aarno A Helbig Ingo I Meier Jochen C JC De Jonghe Peter P Weckhuysen Sarah S Schwarz Guenter G

EMBO molecular medicine 20151201 12

Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable for normal inhibitory neurotransmission. Additionally, gephyrin catalyzes the synthesis of the molybdenum cofactor (MoCo) in peripheral tissue. We identified a de novo missense muta ...[more]

PMID: 26613940

Publication: 1/3

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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.

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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.

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EGAS00001000421-sc-20130814 - 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 EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

| EGAD00001000647 | EGA

Human and mouse trigeminal ganglia cell atlas implicates multiple cell types in migraine

Project description:The sensitization of trigeminal ganglion neurons contributes to primary headache disorders such as migraine, but the specific neuronal and non-neuronal trigeminal subtypes involved remain unclear. We thus developed a cell atlas in which human and mouse trigeminal ganglia are transcriptionally and epigenomically profiled at single-cell resolution. These data describe evolutionarily conserved and human-specific gene expression patterns within each trigeminal ganglion cell type, as well as the transcription factors and gene regulatory elements that contribute to cell-type-specific gene expression. We then leverage these data to identify trigeminal ganglion cell types that are implicated both by human genetic variation associated with migraine and two mouse models of headache. This trigeminal ganglion cell atlas improves our understanding of the cell types, genes, and epigenomic features involved in headache pathophysiology and establishes a rich resource of cell-type-specific molecular features to guide the development of more selective treatments for headache and facial pain.

2022-02-26 | GSE197289 | GEO

Characterizing cerebrospinal fluid immunity in neurological manifestations of COVID-19

Project description:Patients suffering from Coronavirus disease 2019 (COVID-19) can develop neurological sequelae, such as headache, neuroinflammatory or cerebrovascular disease. These conditions - here termed Neuro-COVID - are more frequent in patients with severe COVID-19. To understand the etiology of these neurological sequelae, we utilized single-cell sequencing and examined the immune cell profiles from the cerebrospinal fluid (CSF) of Neuro-COVID patients compared to patients with non-inflammatory and autoimmune neurological diseases or with viral encephalitis. The CSF of Neuro-COVID patients exhibited an expansion of dedifferentiated monocytes and of exhausted CD4+ T cells. Neuro-COVID CSF leukocytes featured an enriched interferon signature; however, this was less pronounced than in viral encephalitis. Repertoire analysis revealed broad clonal T cell expansion and curtailed interferon response in severe compared to mild Neuro-COVID patients. Collectively, our findings document the CSF immune compartment in Neuro-COVID patients and suggest compromised antiviral responses in this setting.

2020-12-11 | GSE163005 | GEO

Repeated Measures Bulk RNA-Seq Analysis in Interictal Migraineurs vs. Healthy Controls

Project description:A comprehensive bulk RNA-Seq analysis with two distinct time points was undertaken, comprising a cohort of 22 individuals affected by interictal migraine and a comparative group of 30 individuals in robust health. It is noteworthy that both cohorts were entirely free from any headache manifestations and did not utilize either acute or chronic medication. The subsequent investigation entailed a rigorous examination of the interictal migraineurs in relation to the healthy control cohort, with meticulous attention given to the identification and validation of replicable findings.

2024-09-12 | E-MTAB-13397 | biostudies-arrayexpress

VPA alleviates neurological deficits and restores gene expression in a mouse model of Rett syndrome

Project description:Rett syndrome (RTT) is a devastating neurodevelopmental disorder that occurs once in every 10,000-15,000 live female births. Despite intensive research, no effective cure is yet available. Valproic acid (VPA) has been used widely to treat mood disorder, epilepsy, and a growing number of other disorders. In limited clinical studies, VPA has also been used to control seizure in RTT patients with promising albeit somewhat unclear efficacy. In this study we tested the effect of VPA on the neurological symptoms of RTT and discovered that short-term VPA treatment during the symptomatic period could reduce neurological symptoms in RTT mice. We found that VPA restores the expression of a subset of genes in RTT mouse brains, and these genes clustered in neurological disease and developmental disorder networks. Our data suggest that VPA could be used as a drug to alleviate RTT symptoms. Wild type or MeCP2KO mice received daily injections of VPA (300 mg/kg) for 2 weeks. Each experimental condition: WT control, KO treated with VPA (KO+VPA), and KO treated with saline (KO+saline). Half brain samples were retrieved.

2014-10-04 | E-GEOD-56780 | biostudies-arrayexpress

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