{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T02:55:43Z","timestamp":1769828143476,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81171221"],"award-info":[{"award-number":["81171221"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">PCDH19<\/jats:styled-content><\/jats:italic>, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with <jats:italic><jats:styled-content style=\"fixed-case\">PCDH19<\/jats:styled-content><\/jats:italic> mutations in a Chinese population. We screened for <jats:italic><jats:styled-content style=\"fixed-case\">PCDH19<\/jats:styled-content><\/jats:italic> mutations in 75 girls diagnosed with Dravet syndrome (<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>) without a <jats:italic><jats:styled-content style=\"fixed-case\">SCN1A<\/jats:styled-content><\/jats:italic> mutation and 29 girls with fever\u2010sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6\/75, 8%) <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> girls and 15 (15\/29, 51.7%) girls with fever\u2010sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5\u201318 months), seizures sensitive to fever, focal seizures or generalized tonic\u2013clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of <jats:italic><jats:styled-content style=\"fixed-case\">PCDH19<\/jats:styled-content><\/jats:italic> mutations includes female <jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers.<\/jats:p>","DOI":"10.1111\/cge.12846","type":"journal-article","created":{"date-parts":[[2016,8,16]],"date-time":"2016-08-16T09:16:42Z","timestamp":1471339002000},"page":"54-62","source":"Crossref","is-referenced-by-count":32,"title":["The clinical spectrum of female epilepsy patients with <i><scp>PCDH19<\/scp><\/i> mutations in a Chinese population"],"prefix":"10.1111","volume":"91","author":[{"given":"A.","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing 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