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In the first step, we used NGS<\/jats:styled-content> with a custom panel including MECP2<\/jats:styled-content><\/jats:italic>, CDKL5<\/jats:styled-content><\/jats:italic>, FOXG1<\/jats:styled-content><\/jats:italic>, MEF2C<\/jats:styled-content><\/jats:italic> and IQSEC2<\/jats:styled-content><\/jats:italic>. In addition to a FOXG1<\/jats:styled-content><\/jats:italic> mutation in a patient with all core features of the congenital variant of RTT<\/jats:styled-content>, we identified a missense (p.Ser240Thr<\/jats:styled-content>) in CDKL5<\/jats:styled-content><\/jats:italic> in a patient who appeared to be seizure free. This missense was maternally inherited with opposite allele expression ratios in the proband and her mother. In the asymptomatic mother, the mutated copy of the CDKL5<\/jats:styled-content><\/jats:italic> gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2<\/jats:styled-content><\/jats:italic> in a patient with a Rett\u2010like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo<\/jats:italic> missense (p.Val408Ala<\/jats:styled-content>) in KCNA2<\/jats:styled-content><\/jats:italic> encoding the potassium channel Kv 1.2 in a girl with infantile\u2010onset seizures variant of RTT<\/jats:styled-content>. Our study expands the genetic heterogeneity of RTT<\/jats:styled-content> and RTT<\/jats:styled-content>\u2010like phenotypes. Moreover, we report the first familial case of CDKL5<\/jats:styled-content><\/jats:italic>\u2010related disease.<\/jats:p>","DOI":"10.1111\/cge.12784","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:43:33Z","timestamp":1460310213000},"page":"431-440","source":"Crossref","is-referenced-by-count":45,"title":["Rett\u2010like phenotypes: expanding the genetic heterogeneity to the KCNA2<\/scp><\/i> gene and first familial case of CDKL5<\/scp><\/i>\u2010related disease"],"prefix":"10.1111","volume":"91","author":[{"given":"L.","family":"Allou","sequence":"first","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHU de Nancy \u2013 H\u00f4pital de Brabois Nancy France"},{"name":"Development and Disease Group Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Julia","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique 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