HuGE Literature Finder
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| Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
| PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. Seizure 2019 6 71 1-5. Okumura Akihisa, Shimojima Keiko, Kurahashi Hirokazu, Numoto Shingo, Shimada Shino, Ishii Atsushi, Ohmori Iori, Takahashi Satoru, Awaya Tomonari, Kubota Tetsuo, Sakakibara Takafumi, Ishihara Naoko, Hattori Ayako, Torisu Hiroyuki, Tohyama Jun, Inoue Takeshi, Haibara Akiko, Nishida Takuji, Yuhara Yukihiro, Miya Kazushi, Tanaka Ryuta, Hirose Shinichi, Yamamoto Toshiyu |
| Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
| Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. European journal of neurology : the official journal of the European Federation of Neurological Societies 2014 Apr 21 (4): 674-8. Tan L C S, Methawasin K, Teng E W L, Ng A R J, Seah S H, Au W L, Liu J J, Foo J N, Zhao Y, Tan E |
| PRRT2 mutations: exploring the phenotypical boundaries. Journal of neurology, neurosurgery, and psychiatry 2014 Apr 85 (4): 462-5. Djémié Tania, Weckhuysen Sarah, Holmgren Philip, Hardies Katia, Van Dyck Tine, Hendrickx Rik, Schoonjans An-Sofie, Van Paesschen Wim, Jansen Anna C, De Meirleir Linda, Selim Laila Abdel Moteleb, Girgis Marian Y, Buyse Gunnar, Lagae Lieven, Smets Katrien, Smouts Iris, Claeys Kristl G, Van den Bergh Vic, Grisar Thierry, Blatt Ilan, Shorer Zamir, Roelens Filip, Afawi Zaid, Helbig Ingo, Ceulemans Berten, De Jonghe Peter, Suls Arv |
| Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. PloS one 2014 9 (3): e88600. Huguet Guillaume, Nava Caroline, Lemière Nathalie, Patin Etienne, Laval Guillaume, Ey Elodie, Brice Alexis, Leboyer Marion, Szepetowski Pierre, Gillberg Christopher, Depienne Christel, Delorme Richard, Bourgeron Thom |
| Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
| Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes, brain, and behavior 2013 Mar 12 (2): 234-40. Liu X-R, Wu M, He N, Meng H, Wen L, Wang J-L, Zhang M-P, Li W-B, Mao X, Qin J-M, Li B-M, Tang B, Deng Y-H, Shi Y-W, Su T, Yi Y-H, Tang B-S, Liao W |
| Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013 Jan . Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglilatela M, Coviello DA, Vigevano F, Minetti C |
| Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. Brain & development 2012 Oct . Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S |
| PRRT2 mutations cause hemiplegic migraine. Neurology 2012 Oct . Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E |
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- Page last updated:Mar 29, 2023
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