Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Epilepsy and KCNA2[original query] |
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| Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS genetics 2015 May 11 (5): e1005226. Lal Dennis, Ruppert Ann-Kathrin, Trucks Holger, Schulz Herbert, de Kovel Carolien G, Kasteleijn-Nolst Trenité Dorothée, Sonsma Anja C M, Koeleman Bobby P, Lindhout Dick, Weber Yvonne G, Lerche Holger, Kapser Claudia, Schankin Christoph J, Kunz Wolfram S, Surges Rainer, Elger Christian E, Gaus Verena, Schmitz Bettina, Helbig Ingo, Muhle Hiltrud, Stephani Ulrich, Klein Karl M, Rosenow Felix, Neubauer Bernd A, Reinthaler Eva M, Zimprich Fritz, Feucht Martha, Møller Rikke S, Hjalgrim Helle, De Jonghe Peter, Suls Arvid, Lieb Wolfgang, Franke Andre, Strauch Konstantin, Gieger Christian, Schurmann Claudia, Schminke Ulf, Nürnberg Peter, , Sander Thom |
| Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
| Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain : a journal of neurology 2017 10 140 (9): 2337-2354. Masnada Silvia, Hedrich Ulrike B S, Gardella Elena, Schubert Julian, Kaiwar Charu, Klee Eric W, Lanpher Brendan C, Gavrilova Ralitza H, Synofzik Matthis, Bast Thomas, Gorman Kathleen, King Mary D, Allen Nicholas M, Conroy Judith, Ben Zeev Bruria, Tzadok Michal, Korff Christian, Dubois Fanny, Ramsey Keri, Narayanan Vinodh, Serratosa Jose M, Giraldez Beatriz G, Helbig Ingo, Marsh Eric, O'Brien Margaret, Bergqvist Christina A, Binelli Adrian, Porter Brenda, Zaeyen Eduardo, Horovitz Dafne D, Wolff Markus, Marjanovic Dragan, Caglayan Hande S, Arslan Mutluay, Pena Sergio D J, Sisodiya Sanjay M, Balestrini Simona, Syrbe Steffen, Veggiotti Pierangelo, Lemke Johannes R, Møller Rikke S, Lerche Holger, Rubboli Gui |
| The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy. Journal of personalized medicine 2018 Nov 8 (4): . Al-Eitan Laith N, Al-Dalalah Islam M, Elshammari Afrah K, Khreisat Wael H, Almasri Ayah |
| Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular genetics and genomics : MGG 2020 3 295 (3): 751-763. Dunn Paul J, Maher Bridget H, Albury Cassie L, Stuart Shani, Sutherland Heidi G, Maksemous Neven, Benton Miles C, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy. European journal of medical genetics 2020 1 63 (4): 103848. Vetri Luigi, Calì Francesco, Vinci Mirella, Amato Carmelo, Roccella Michele, Granata Tiziana, Freri Elena, Solazzi Roberta, Romano Valentino, Elia Mauriz |
| Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy. Journal of clinical neurology (Seoul, Korea) 2024 7 20 (4): 402-411. Hui Jin Shin, Ara Ko, Se Hee Kim, Joon Soo Lee, Hoon-Chul Ka |
| 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 |
- Page last reviewed:Feb 1, 2024
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