/manager/Index ${session.getAttribute("locale")} 5 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families /manager/Repository/uon:10275 Sat 24 Mar 2018 08:13:04 AEDT ]]> SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome /manager/Repository/uon:5320 Sat 24 Mar 2018 07:45:58 AEDT ]]> Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans /manager/Repository/uon:3341 Sat 24 Mar 2018 07:22:35 AEDT ]]> A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A /manager/Repository/uon:24614 T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100 000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. Conclusions: The association of RNF113A mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.]]> Sat 24 Mar 2018 07:11:55 AEDT ]]>