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Dokumenttyp:
journal article 
Autor(en):
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt,...    »
 
Titel:
encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 
Abstract:
We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of encephalopathy and explored potential prospects of personalised medicine.Data of 48 individuals with de novo variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care.Overall, de novo variants in 86 patients were cla...    »
 
Zeitschriftentitel:
J Med Genet 
Jahr:
2017 
Band / Volume:
54 
Heft / Issue:
Seitenangaben Beitrag:
460-470 
Sprache:
eng 
Print-ISSN:
0022-2593 
TUM Einrichtung:
Institut für Humangenetik