Publications:

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Biomedicines

Döring, Jan Henje JH; Saffari, Afshin A; Bast, Thomas T; Brockmann, Knut K; Ehrhardt, Laura L; Fazeli, Walid W; Janzarik, Wibke G WG; Kluger, Gerhard G; Muhle, Hiltrud H; Møller, Rikke S RS; Platzer, Konrad K; Santos, Joana Larupa JL; Bache, Iben I; Bertsche, Astrid A; Bonfert, Michaela M; Borggräfe, Ingo I; Broser, Philip J PJ; Datta, Alexandre N AN; Hammer, Trine Bjørg TB; Hartmann, Hans H; Hasse-Wittmer, Anette A; Henneke, Marco M; Kühne, Hermann H; Lemke, Johannes R JR; Maier, Oliver O; Matzker, Eva E; Merkenschlager, Andreas A; Opp, Joachim J; Patzer, Steffi S; Rostasy, Kevin K; Stark, Birgit B; Strzelczyk, Adam A; von Stülpnagel, Celina C; Weber, Yvonne Y; Wolff, Markus M; Zirn, Birgit B; Hoffmann, Georg Friedrich GF; Kölker, Stefan S; Syrbe, Steffen S

Publication Date: 2020-10-28

Variant appearance in text: PRRT2: 593_594del; Pro198Argfs*26

PubMed Link: 33126500

Variant Present in the following documents:

• Main text
• biomedicines-08-00456.pdf

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Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Journal Of Human Genetics

Zeng, Qi Q; Yang, Xiaoling X; Zhang, Jing J; Liu, Aijie A; Yang, Zhixian Z; Liu, Xiaoyan X; Wu, Ye Y; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2018-01

Variant appearance in text: PRRT2: 593_594delCT

PubMed Link: 29215089

Variant Present in the following documents:

• Main text
• 10038_2017_Article_359.pdf

View BVdb publication page