Expression and function of the metabotropic purinergic P2Y receptor family in experimental seizure models and patients with drug-refractory epilepsy

Epilepsia ◽  
2017 ◽  
Vol 58 (9) ◽  
pp. 1603-1614 ◽  
Author(s):  
Mariana Alves ◽  
Rosa Gomez-Villafuertes ◽  
Norman Delanty ◽  
Michael A. Farrell ◽  
Donncha F. O'Brien ◽  
...  
2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Timothy S. Breton ◽  
William G. B. Sampson ◽  
Benjamin Clifford ◽  
Anyssa M. Phaneuf ◽  
Ilze Smidt ◽  
...  

AbstractThe SREB (Super-conserved Receptors Expressed in Brain) family of G protein-coupled receptors is highly conserved across vertebrates and consists of three members: SREB1 (orphan receptor GPR27), SREB2 (GPR85), and SREB3 (GPR173). Ligands for these receptors are largely unknown or only recently identified, and functions for all three are still beginning to be understood, including roles in glucose homeostasis, neurogenesis, and hypothalamic control of reproduction. In addition to the brain, all three are expressed in gonads, but relatively few studies have focused on this, especially in non-mammalian models or in an integrated approach across the entire receptor family. The purpose of this study was to more fully characterize sreb genes in fish, using comparative genomics and gonadal expression analyses in five diverse ray-finned (Actinopterygii) species across evolution. Several unique characteristics were identified in fish, including: (1) a novel, fourth euteleost-specific gene (sreb3b or gpr173b) that likely emerged from a copy of sreb3 in a separate event after the teleost whole genome duplication, (2) sreb3a gene loss in Order Cyprinodontiformes, and (3) expression differences between a gar species and teleosts. Overall, gonadal patterns suggested an important role for all sreb genes in teleost testicular development, while gar were characterized by greater ovarian expression that may reflect similar roles to mammals. The novel sreb3b gene was also characterized by several unique features, including divergent but highly conserved amino acid positions, and elevated brain expression in puffer (Dichotomyctere nigroviridis) that more closely matched sreb2, not sreb3a. These results demonstrate that SREBs may differ among vertebrates in genomic structure and function, and more research is needed to better understand these roles in fish.


2021 ◽  
Author(s):  
Fabienne Kühne ◽  
Alexander Jungbluth ◽  
Joanna Schneider ◽  
Christoph Bührer ◽  
Christine Prager ◽  
...  

Purpose: Perinatal ischemic stroke (PIS) is a frequent cause for perinatal brain structure defects resulting in epilepsy, cerebral palsy and disability. Since the severity of symptoms is variable, the aim of this study was to evaluate the outcome of children with PIS and seizures/epilepsy to aid parental counseling and therapy decisions. Material: We studied retrospectively patients with arterial PIS and structural epilepsy or seizures in the newborn treated at a single center in 2000-2019. Specifically, signs and symptoms of cerebral palsy (CP), developmental and motor delay, epilepsy and thrombophilia were assessed. Results: From the identified 69 individuals with arterial PIS, we only included the 50 patients (64% male) who had structural epilepsy at the time of investigation or previously in their medical history.The mean age of the included patients was 7.1 years (range 0.08-22) at last consultation. Infarct localisation was predominantly unilateral (86%), left sided (58%) and affecting the middle cerebral artery (94%). Genetic thrombophilia was identified in 52% of the patients examined with genetic testing. More than half of the individuals had CP (52%), and 38.5% had a cognitive outcome below average. First seizures occurred in the neonatal period in 58% of patients and developed into drug-refractory epilepsy in 24.1%. Children with late-onset of epilepsy were twice as likely to develop drug-refractory epilepsy (52.4%). Discussion: Our study shows that patients with PIS and seizures as common sequela often also develop CP. Children with later onset of epilepsy have a worse outcome. Patients with seizure onset in the neonatal period and reccuring seizures have a good response to treatment. Therefore, early diagnosis, follow-up examination and adequate therapy are important. Most children need intensive physiotherapy and speech therapy; however, participation in life is usually age-appropriate.


2021 ◽  
pp. 106804
Author(s):  
Somdattaa Ray ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Hansashree Padmanabha ◽  
Karthik Kulanthaivelu ◽  
...  

2003 ◽  
Vol 24 (2) ◽  
pp. 52-55 ◽  
Author(s):  
Maria P Abbracchio ◽  
Jean-Marie Boeynaems ◽  
Eric A Barnard ◽  
José L Boyer ◽  
Charles Kennedy ◽  
...  
Keyword(s):  

2015 ◽  
Vol 51 ◽  
pp. 277-280 ◽  
Author(s):  
Ai-Jun Xu ◽  
Tao-Tao Liu ◽  
Zhi-Gang He ◽  
Qing-Xiong Hong ◽  
Hong-Bing Xiang

1999 ◽  
Vol 215 (2) ◽  
pp. 314-331 ◽  
Author(s):  
Tomoyuki Miyabayashi ◽  
Mark T Palfreyman ◽  
Ann E Sluder ◽  
Frank Slack ◽  
Piali Sengupta

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