Präzisionsmedizin für genetische Epilepsien – am Anfang des Weges?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Pediatrics, Perinatology, and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s10309-021-00409-0.pdf
Reference37 articles.
1. Berg AT, Coryell J, Saneto RP et al (2017) Early-life epilepsies and the emerging role of genetic testing. JAMA Pediatr 171:863–871
2. bioRxiv:2020.2011.2012.379164;LE Burbano,2020
3. Doring JH, Saffari A, Bast T et al (2020) The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood. Biomedicines 8
4. Fitzgerald MP, Fiannacca M, Smith DM et al (2019) Treatment responsiveness in KCNT1-related epilepsy. Neurotherapeutics 16:848–857
5. Guiberson NGL, Pineda A, Abramov D et al (2018) Mechanism-based rescue of Munc18‑1 dysfunction in varied encephalopathies by chemical chaperones. Nat Commun 9:3986
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