ArticleAnnals of clinical and translational neurology2014
Identification of Srp9 as a febrile seizure susceptibility gene.
Article in Annals of clinical and translational neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Significance of signal recognition particle 9 nuclear translocation: Implications for pancreatic cancer prognosis and functionality.International journal of oncology · 2024Article
- The long-term neurodevelopmental outcomes of febrile seizures and underlying mechanisms.Frontiers in cell and developmental biology · 2023Review
- Transcriptome Profile in the Mouse Brain of Hepatic Encephalopathy and Alzheimer's Disease.International journal of molecular sciences · 2022Article
- Signal Recognition Particle in Human Diseases.Frontiers in genetics · 2022Article
- Noncanonical Functions and Cellular Dynamics of the Mammalian Signal Recognition Particle Components.Frontiers in molecular biosciences · 2021Review
- Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study.Frontiers in neurology · 2020Article
- The relevance of inter- and intrastrain differences in mice and rats and their implications for models of seizures and epilepsy.Epilepsy & behavior : E&B · 2017Review
- Blood DNA methylation pattern is altered in mesial temporal lobe epilepsy.Scientific reports · 2017Article
- Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.Scientific reports · 2015Article
- Contrasting genetic architectures in different mouse reference populations used for studying complex traits.Genome research · 2015Review
- Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus.PloS one · 2015Article
Corrections and comments
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Authors and funding
34 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFebrile seizures (FS) are the most common seizure type in young children. Complex FS are a risk factor for mesial temporal lobe epilepsy (mTLE). To identify new FS susceptibility genes we used a forward genetic strategy in mice and subsequently analyzed candidate genes in humans.
methodsWe mapped a quantitative trait locus (QTL1) for hyperthermia-induced FS on mouse chromosome 1, containing the signal recognition particle 9 (Srp9) gene. Effects of differential Srp9 expression were assessed in vivo and in vitro. Hippocampal SRP9 expression and genetic association were analyzed in FS and mTLE patients.
resultsSrp9 was differentially expressed between parental strains C57BL/6J and A/J. Chromosome substitution strain 1 (CSS1) mice exhibited lower FS susceptibility and Srp9 expression than C57BL/6J mice. In vivo knockdown of brain Srp9 reduced FS susceptibility. Mice with reduced Srp9 expression and FS susceptibility, exhibited reduced hippocampal AMPA and NMDA currents. Downregulation of neuronal Srp9 reduced surface expression of AMPA receptor subunit GluA1. mTLE patients with antecedent FS had higher SRP9 expression than patients without. SRP9 promoter SNP rs12403575(G/A) was genetically associated with FS and mTLE.
interpretationOur findings identify SRP9 as a novel FS susceptibility gene and indicate that SRP9 conveys its effects through endoplasmic reticulum (ER)-dependent synthesis and trafficking of membrane proteins, such as glutamate receptors. Discovery of this new FS gene and mechanism may provide new leads for early diagnosis and treatment of children with complex FS at risk for mTLE.
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Registered trials
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