Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Abnormalities and STXBP1[original query] |
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013 May 54 (5): e74-80. Weckhuysen Sarah, Holmgren Philip, Hendrickx Rik, Jansen Anna C, Hasaerts Daniele, Dielman Charlotte, de Bellescize Julitta, Boutry-Kryza Nadia, Lesca Gaetan, Von Spiczak Sarah, Helbig Ingo, Gill Deepak, Yendle Simone, Møller Rikke S, Klitten Laura, Korff Christian, Godfraind Catherine, Van Rijckevorsel Kenou, De Jonghe Peter, Hjalgrim Helle, Scheffer Ingrid E, Suls Arv |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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