| http://purl.uniprot.org/citations/24710820 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24710820 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24710820 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencing did not reveal any other disease causing mutation. Our patient contributes to the expanding phenotypic spectrum of SCN2A-related disorders and underlines the importance of genetic workup in epileptic encephalopathies."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.org/dc/terms/identifier | "doi:10.1055/s-0034-1372302"xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.org/dc/terms/identifier | "doi:10.1055/s-0034-1372302"xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Baumer A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Baumer A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Sticht H."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Sticht H."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Schmitt B."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Schmitt B."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Joset P."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Joset P."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Rauch A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Rauch A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Hackenberg A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Hackenberg A."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Kroell-Seger J."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Kroell-Seger J."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Papuc S."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Papuc S."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Wille D."xsd:string |
| http://purl.uniprot.org/citations/24710820 | http://purl.uniprot.org/core/author | "Wille D."xsd:string |