3 documents found, page 1 of 1
Structural Analysis of Pathogenic Missense Mutations in GABRA2 and Identificati...
Sanchis-Juan, A; Hasenahuer, MA; Baker, JA; McTague, A; Barwick, K; Kurian, MA; Duarte, ST; Carss, KJ; Thornton, J; Raymond, FLBackground: Cys-loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a novel de novo missense variant in GABRA2 in a patient with EIEE and performed protein structural analysis of the se...
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, HNext-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. ...
LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct...
Dallabona, C; Abbink, TEM; Carrozzo, R; Torraco, A; Legati, A; van Berkel, CGM; Niceta, M; Langella, T; Verrigni, D; Rizza, T; Diodato, D; Piemonte, FThis study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a c...