Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β(3) subunit of the GABA(A) receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing...

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Udgivet i:Neurology
Main Authors: Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5278942/
https://ncbi.nlm.nih.gov/pubmed/28053010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003565
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