Article

Mutant Plasticity Related Gene 1 ( <i>PRG1</i> ) acts as a potential modifier in <i>SCN1A</i> related epilepsy

2018-03-15

Abstract excerpt

<h4>ABSTRACT</h4> Plasticity related gene 1 encodes a cerebral neuron-specific synaptic transmembrane protein that modulates hippocampal excitatory transmission on glutamatergic neurons. In mice, homozygous Prg1-deficiency results in juvenile epilepsy. Screening a cohort of 18 patients with infantile spasms (West syndrome), we identified one patient with a heterozygous mutation in the highly conserved third extra...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7529ceda-d3a4-51b1-943a-70f9b12d33e1
DOI: 10.1101/282871

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutant Plasticity Related Gene 1 ( <i>PRG1</i> ) acts as a potential modifier in <i>SCN1A</i> related epilepsyDOI 10.1101/282871Read

Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.Semantic proximity Read

<i>SYNGAP1</i> haploinsufficiency disrupts early neurodevelopment and accelerates intrinsic neuronal maturation in human patient-derived modelsSemantic proximity Read

Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of <i>SCN1A</i> gain-of-function neurodevelopmental disorderSemantic proximity Read

A novel mouse model for developmental and epileptic encephalopathy by Purkinje cell-specific deletion of <i>Scn1b</i>Semantic proximity Read

Variant-specific changes in persistent or resurgent Na <sup>+</sup> current in <i>SCN8A</i> -EIEE13 iPSC-derived neuronsSemantic proximity Read

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read

Expanding the genotype-phenotype spectrum in SCN8A-related disordersSemantic proximity Read

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical OrganoidsSemantic proximity Read

Distinctive <i>in vitro</i> phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function <i>SCN2A</i> developmental and epileptic encephalopathySemantic proximity Read

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activitySemantic proximity Read

Genotype and phenotype correlation of PHACTR1-related neurological disorders.Semantic proximity Read

<i>SCN1A</i> -deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypesSemantic proximity Read