PMC:6610377 / 10707-11280
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6610377","sourcedb":"PMC","sourceid":"6610377","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6610377","text":"Genetic Testing\nGenetic defects have been reported in operculo-insular epilepsy cases, including mutations in the CHRNB2 and CHRNA4 genes in 2 patients with sleep-related hypermotor seizures (functional testing under way).24 A subtle insular focal cortical dysplasia was reported in a patient with familial focal epilepsy associated with DEPDC5 mutation.25 Finally, Nguyen and colleagues26 described an epileptogenic network involving the temporo-insular region in a family with reflex bathing epilepsy associated with a Q555X mutation of synapsin 1 on chromosome Xp11-q21.","divisions":[{"label":"title","span":{"begin":0,"end":15}}],"tracks":[{"project":"MyTest","denotations":[{"id":"30838920-28644201-28639276","span":{"begin":222,"end":225},"obj":"28644201"},{"id":"30838920-25623524-28639277","span":{"begin":354,"end":357},"obj":"25623524"},{"id":"30838920-26096837-28639278","span":{"begin":387,"end":390},"obj":"26096837"}],"namespaces":[{"prefix":"_base","uri":"https://www.uniprot.org/uniprot/testbase"},{"prefix":"UniProtKB","uri":"https://www.uniprot.org/uniprot/"},{"prefix":"uniprot","uri":"https://www.uniprot.org/uniprotkb/"}],"attributes":[{"subj":"30838920-28644201-28639276","pred":"source","obj":"MyTest"},{"subj":"30838920-25623524-28639277","pred":"source","obj":"MyTest"},{"subj":"30838920-26096837-28639278","pred":"source","obj":"MyTest"}]},{"project":"0_colil","denotations":[{"id":"30838920-28644201-1127","span":{"begin":222,"end":224},"obj":"28644201"},{"id":"30838920-25623524-1128","span":{"begin":354,"end":356},"obj":"25623524"},{"id":"30838920-26096837-1129","span":{"begin":387,"end":389},"obj":"26096837"}],"attributes":[{"subj":"30838920-28644201-1127","pred":"source","obj":"0_colil"},{"subj":"30838920-25623524-1128","pred":"source","obj":"0_colil"},{"subj":"30838920-26096837-1129","pred":"source","obj":"0_colil"}]},{"project":"2_test","denotations":[{"id":"30838920-28644201-28639276","span":{"begin":222,"end":224},"obj":"28644201"},{"id":"30838920-25623524-28639277","span":{"begin":354,"end":356},"obj":"25623524"},{"id":"30838920-26096837-28639278","span":{"begin":387,"end":389},"obj":"26096837"}],"attributes":[{"subj":"30838920-28644201-28639276","pred":"source","obj":"2_test"},{"subj":"30838920-25623524-28639277","pred":"source","obj":"2_test"},{"subj":"30838920-26096837-28639278","pred":"source","obj":"2_test"}]},{"project":"testtesttest","denotations":[{"id":"T90","span":{"begin":447,"end":461},"obj":"Body_part"},{"id":"T91","span":{"begin":553,"end":563},"obj":"Body_part"}],"attributes":[{"id":"A90","pred":"uberon_id","subj":"T90","obj":"http://purl.obolibrary.org/obo/UBERON_0002022"},{"id":"A91","pred":"uberon_id","subj":"T91","obj":"http://purl.obolibrary.org/obo/GO_0005694"},{"subj":"T90","pred":"source","obj":"testtesttest"},{"subj":"T91","pred":"source","obj":"testtesttest"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"MyTest","color":"#93a3ec","default":true},{"id":"0_colil","color":"#bdec93"},{"id":"2_test","color":"#ec93d7"},{"id":"testtesttest","color":"#93ece6"}]}]}}