<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> .
<> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/title> "A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: functional characterization and targeted treatment"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/abstract> "AMPA-type glutamate receptors (AMPARs) are ligand-gated cationic channels formed from combinations of GluA1-4 subunits. Pathogenic variants of GRIA1-4 have been described in patients with developmental delay, intellectual disability, autism spectrum disorder, and seizures, with GRIA2 variants typically causing AMPAR loss-of-function. Here we identify a novel, heterozygous de novo pathogenic missense mutation in GRIA2 (c.1928 C>T, p.A643V, NM_001083619.1) in a one-year-old boy with epilepsy, developmental delay and failure-to-thrive. We made patch-clamp recordings to compare the functional and pharmacological properties of variant and wild-type receptors expressed in HEK293 cells, with- and without the transmembrane AMPAR regulatory protein (TARP) γ2. This showed GluA2 A643V-containing AMPARs to exhibit a novel gain-of-function, with greatly slowed deactivation, markedly reduced desensitization and increased glutamate sensitivity. Perampanel, an anti-seizure AMPAR negative allosteric modulator, was able to fully block GluA2 A643V/γ2 currents, suggesting potential therapeutic efficacy. The subsequent introduction of perampanel to the patient's treatment regimen was associated with a marked reduction in seizure burden, a resolution of failure-to-thrive, and clear developmental gains. Our study reveals that GRIA2 disorder can be caused by a gain-of-function variant, and both predicts and suggests the therapeutic efficacy of perampanel. Perampanel may prove beneficial for patients with other gain-of-function GRIA variants."^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/date> "2022-12" .
<https://discovery-pp.ucl.ac.uk/id/document/1523515> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/volume> "63" .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/issue> "12" .
<https://discovery-pp.ucl.ac.uk/id/org/ext-e7795bc59c66fd1972aa29b4459edb20> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Organization> .
<https://discovery-pp.ucl.ac.uk/id/org/ext-e7795bc59c66fd1972aa29b4459edb20> <http://xmlns.com/foaf/0.1/name> "Wiley"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/publisher> <https://discovery-pp.ucl.ac.uk/id/org/ext-e7795bc59c66fd1972aa29b4459edb20> .
<https://discovery-pp.ucl.ac.uk/id/publication/ext-00139580> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Collection> .
<https://discovery-pp.ucl.ac.uk/id/publication/ext-00139580> <http://xmlns.com/foaf/0.1/name> "Epilepsia"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/isPartOf> <https://discovery-pp.ucl.ac.uk/id/publication/ext-00139580> .
<https://discovery-pp.ucl.ac.uk/id/publication/ext-00139580> <http://www.w3.org/2002/07/owl#sameAs> <urn:issn:00139580> .
<https://discovery-pp.ucl.ac.uk/id/publication/ext-00139580> <http://purl.org/ontology/bibo/issn> "00139580" .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/published> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_2> <https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_3> <https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_4> <https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_5> <https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/creator> <https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/ontology/bibo/authorList> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_6> <https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> <http://xmlns.com/foaf/0.1/givenName> "Stuart G"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> <http://xmlns.com/foaf/0.1/familyName> "Cull-Candy"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-add90bfa6af5704b5c9c62a587e06a4e> <http://xmlns.com/foaf/0.1/name> "Stuart G Cull-Candy"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> <http://xmlns.com/foaf/0.1/givenName> "Ian D"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> <http://xmlns.com/foaf/0.1/familyName> "Coombs"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-024535c2e4bf1b4086bc8e9e3e2ceb2b> <http://xmlns.com/foaf/0.1/name> "Ian D Coombs"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> <http://xmlns.com/foaf/0.1/givenName> "Mark"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> <http://xmlns.com/foaf/0.1/familyName> "Farrant"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-42fceb7654b5013e1a8b0a77d9c22d2c> <http://xmlns.com/foaf/0.1/name> "Mark Farrant"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> <http://xmlns.com/foaf/0.1/givenName> "Volodymyr"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> <http://xmlns.com/foaf/0.1/familyName> "Krotov"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-06238cd87d72e1ee42ea74e704139d28> <http://xmlns.com/foaf/0.1/name> "Volodymyr Krotov"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> <http://xmlns.com/foaf/0.1/givenName> "Taryn-Leigh"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> <http://xmlns.com/foaf/0.1/familyName> "Surtees"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-e498521941542db8c955504faf138ccb> <http://xmlns.com/foaf/0.1/name> "Taryn-Leigh Surtees"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> <http://xmlns.com/foaf/0.1/givenName> "Julie"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> <http://xmlns.com/foaf/0.1/familyName> "Ziobro"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/person/ext-46cfda21427d73c86940c520bf21f575> <http://xmlns.com/foaf/0.1/name> "Julie Ziobro"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/ArticleEPrint> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://purl.org/dc/terms/isPartOf> <https://discovery-pp.ucl.ac.uk/id/repository> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://eprints.org/ontology/hasDocument> <https://discovery-pp.ucl.ac.uk/id/document/1523515> .
<https://discovery-pp.ucl.ac.uk/id/document/1523515> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery-pp.ucl.ac.uk/id/document/1523515> <http://www.w3.org/2000/01/rdf-schema#label> "A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: functional characterization and targeted treatment (Text)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/document/1523515> <http://eprints.org/ontology/hasFile> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565/1/Epilepsia%20-%202022%20-%20Coombs%20-%20A%20gain%E2%80%90of%E2%80%90function%20GRIA2%20variant%20associated%20with%20neurodevelopmental%20delay%20and%20seizures%20.pdf> .
<https://discovery-pp.ucl.ac.uk/id/document/1523515> <http://purl.org/dc/terms/hasPart> <https://discovery-pp.ucl.ac.uk/id/eprint/10156565/1/Epilepsia%20-%202022%20-%20Coombs%20-%20A%20gain%E2%80%90of%E2%80%90function%20GRIA2%20variant%20associated%20with%20neurodevelopmental%20delay%20and%20seizures%20.pdf> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565/1/Epilepsia%20-%202022%20-%20Coombs%20-%20A%20gain%E2%80%90of%E2%80%90function%20GRIA2%20variant%20associated%20with%20neurodevelopmental%20delay%20and%20seizures%20.pdf> <http://www.w3.org/2000/01/rdf-schema#label> "Epilepsia - 2022 - Coombs - A gain‐of‐function GRIA2 variant associated with neurodevelopmental delay and seizures .pdf"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery-pp.ucl.ac.uk/id/eprint/10156565> <http://eprints.org/ontology/hasDocument> <https://discovery-pp.ucl.ac.uk/id/document/1553337> .
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