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Presenting clinically as a familial dementia\u2010epilepsy syndrome, the molecular mechanism of the pathogenic abnormalities in neuroserpin has been characterised at atomic resolution. There is a remarkable genotype\u2010phenotype correlation between the degree of molecular destabilisation of the several variants of the neuroserpin protein, their propensity to self\u2010associate and the age of onset of the dementia\u2010epilepsy complex. As with other serpinopathies there appears to be a mix of cell\u2010autonomous toxicity, due to neuronal accumulation of neuroserpin, and non\u2010cell autonomous toxicity, caused by loss of protease inhibition, in this case the dysregulated protease is likely to be tissue plasminogen activator (tPA). FENIB should be considered in cases of progressive myoclonic epilepsy and dementia particularly where there is family history of neuropsychiatric disease.<\/jats:p>","DOI":"10.1684\/epd.2016.0847","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":24,"title":["Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)"],"prefix":"10.1002","volume":"18","author":[{"given":"Benoit D.","family":"Roussel","sequence":"first","affiliation":[{"name":"Wolfson Institute for Biomedical Research, UCL  London UK"},{"name":"Inserm U919, GIP CYCERON University Caen Basse Normandie  Caen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Lomas","sequence":"additional","affiliation":[{"name":"Wolfson Institute for Biomedical Research, UCL  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian C.","family":"Crowther","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Cambridge  UK"},{"name":"MedImmune Limited, Cambridge  United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6583-6"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2009.172"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M200680200"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.2004.04270.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2010.11.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.9.1429"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra010772"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-7-37"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000316306.08751.28"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/43894"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65510-1"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09293-0"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.010744"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb0896-676"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M407069200"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000265052.99144.b5"},{"key":"e_1_2_8_18_1","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1111\/j.1750-3639.2011.00481.x","article-title":"Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the proteinase inhibitor 12 gene","volume":"1","author":"Hagen MC","year":"2011","journal-title":"Brain Pathol"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.52.33062"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1515\/bc.2010.085"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1999.3184"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/35038119"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.027102"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.17-23-08984.1997"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/357605a0"},{"key":"e_1_2_8_26_1","doi-asserted-by":"crossref","first-page":"15333","DOI":"10.1016\/S0021-9258(18)82258-X","article-title":"\u03b11\u2010antitrypsin, Siiyama (Ser53\u00f8Phe); 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