{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:54:42Z","timestamp":1791190482386,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,10]],"date-time":"2015-05-10T00:00:00Z","timestamp":1431216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Programme Hospitalier de Recherche Clinique 2011"},{"name":"Inserm and Aix Marseille University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the <jats:italic>KCNQ2<\/jats:italic> gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy (BFNE) are at the milder end of the spectrum, they are affected by early onset epilepsy but their subsequent neurological development is usually normal. Mutations causing BFNE are often inherited from affected parents. Early infantile epileptic encephalopathy type 7 (EIEE7) is at the other end of the severity spectrum and, although EIEE7 patients have early onset epilepsy too, their neurological development is impaired and they will present motor and intellectual deficiency. EIEE7 mutations occur de novo. Electrophysiological experiments suggested a correlation between the type of mutation and the severity of the disease but intra and interfamilial heterogeneity exist. Here, we describe the identification of <jats:italic>KCNQ2<\/jats:italic> mutation carriers who had children affected with a severe epileptic phenotype, and found that these individuals were mosaic for the <jats:italic>KCNQ2<\/jats:italic> mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a <jats:italic>KCNQ2<\/jats:italic> mutation. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37152","type":"journal-article","created":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T04:49:40Z","timestamp":1431319780000},"page":"2314-2318","source":"Crossref","is-referenced-by-count":51,"title":["Variable clinical expression in patients with mosaicism for <i>KCNQ2<\/i> mutations"],"prefix":"10.1002","volume":"167","author":[{"given":"Mathieu","family":"Milh","sequence":"first","affiliation":[{"name":"Inserm, UMR_S 910, G\u00e9n\u00e9tique M\u00e9dicale et G\u00e9nomique Fonctionnelle Marseille France"},{"name":"Aix Marseille Universit\u00e9, GMGF, Facult\u00e9 de M\u00e9decine Marseille France"},{"name":"APHM, H\u00f4pital d'Enfants de La Timone Service de Neurologie P\u00e9diatrique Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Lacoste","sequence":"additional","affiliation":[{"name":"Inserm, UMR_S 910, G\u00e9n\u00e9tique M\u00e9dicale et G\u00e9nomique Fonctionnelle Marseille France"},{"name":"Aix Marseille Universit\u00e9, GMGF, Facult\u00e9 de M\u00e9decine Marseille France"},{"name":"APHM, H\u00f4pital d'Enfants de La Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Cacciagli","sequence":"additional","affiliation":[{"name":"Inserm, UMR_S 910, G\u00e9n\u00e9tique M\u00e9dicale et G\u00e9nomique Fonctionnelle Marseille France"},{"name":"Aix Marseille Universit\u00e9, GMGF, Facult\u00e9 de M\u00e9decine Marseille France"},{"name":"APHM, H\u00f4pital d'Enfants de La Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Marseille 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G\u00e9nomique Fonctionnelle Marseille France"},{"name":"Aix Marseille Universit\u00e9, GMGF, Facult\u00e9 de M\u00e9decine Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Colin","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique CHU d'Angers Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Badens","sequence":"additional","affiliation":[{"name":"Inserm, UMR_S 910, G\u00e9n\u00e9tique M\u00e9dicale et G\u00e9nomique Fonctionnelle Marseille France"},{"name":"Aix Marseille Universit\u00e9, GMGF, Facult\u00e9 de M\u00e9decine Marseille France"},{"name":"APHM, H\u00f4pital d'Enfants de La Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Trousseau Service de g\u00e9n\u00e9tique clinique et Service de neurop\u00e9diatrie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Dieux","family":"Coeslier","sequence":"additional","affiliation":[{"name":"Clinique de G\u00e9n\u00e9tique H\u00f4pital Jeanne de Flandre Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Dailland","sequence":"additional","affiliation":[{"name":"Centre Hospitalier des Pays de Morlaix P\u00e9diatrie et N\u00e9onatalogie Morlaix France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Hospices Civils de Lyon Universit\u00e9 Lyon 1 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[{"name":"Inserm, UMR_S 910, G\u00e9n\u00e9tique M\u00e9dicale et G\u00e9nomique 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