HuGE Literature Finder
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| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. Journal of the neurological sciences 2020 Apr 414 116808. Shibata Akiko, Kasai Mariko, Terashima Hiroshi, Hoshino Ai, Miyagawa Taku, Kikuchi Kenjiro, Ishii Atsushi, Matsumoto Hiroshi, Kubota Masaya, Hirose Shinichi, Oka Akira, Mizuguchi Masas |
| The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
| Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. Journal of human genetics 2017 Nov . Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
| Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
| KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype. Journal of child neurology 2017 Jan 883073817701873. Lee Inn-Chi, Yang Jiann-Jou, Liang Jao-Shwann, Chang Tung-Ming, Li Shuan-Y |
| Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. Journal of human genetics 2016 Aug . Hortigüela Montesclaros, Fernández-Marmiesse Ana, Cantarín Verónica, Gouveia Sofía, García-Peñas Juan J, Fons Carmen, Armstrong Judith, Barrios Desirée, Díaz-Flores Felícitas, Tirado Pilar, Couce María L, Gutiérrez-Solana Luis |
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
| Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
| Array-comparative genomic hybridization analysis of a cohort of Saudi patients with epilepsy. CNS & neurological disorders drug targets 2015 14 (4): 468-75. Faheem Muhammad, Naseer Muhammad I, Chaudhary Adeel G, Kumosani Taha A, Rasool Mahmood, Algahtani Hussein A, Bibi Fehmida, Kamal Mohammad A, Al-Qahtani Mohammad |
| Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013 Nov 81 (19): 1697-703. Weckhuysen Sarah, Ivanovic Vanja, Hendrickx Rik, Van Coster Rudy, Hjalgrim Helle, Møller Rikke S, Grønborg Sabine, Schoonjans An-Sofie, Ceulemans Berten, Heavin Sinead B, Eltze Christin, Horvath Rita, Casara Gianluca, Pisano Tiziana, Giordano Lucio, Rostasy Kevin, Haberlandt Edda, Albrecht Beate, Bevot Andrea, Benkel Ira, Syrbe Steffan, Sheidley Beth, Guerrini Renzo, Poduri Annapurna, Lemke Johannes R, Mandelstam Simone, Scheffer Ingrid, Angriman Marco, Striano Pasquale, Marini Carla, Suls Arvid, De Jonghe Peter, |
| 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 |
| Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet journal of rare diseases 2013 May 8 (1): 1. Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzzara C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, Ann I, Jaquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L |
| 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 |
| KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 2008 Jul 71 (3): 177-83. Neubauer B A, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander |
| Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy research 2002 Dec 52 (2): 107-16. Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, Asherson P, Makoff A |
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