Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: SCN8A[original query] |
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Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005 1 133B (1): 116-9. Wasserman D, Geijer T, Rozanov V, Wasserman |
SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population. Progress in neuro-psychopharmacology & biological psychiatry 2008 Dec 32 (8): 1902-4. Wang Yang, Zhang Jing, Li Xingwang, Ji Jue, Yang Fengping, Wan Chunling, Feng Guoyin, Wan Peng, He Lin, He Gua |
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism & related disorders 2009 May 15 (4): 321-3. Sharkey Lisa M, Jones Julie M, Hedera Peter, Meisler Miriam |
Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2010 Dec 11 (8): 956-63. Wang Yang, Zhang Jing, Liu Baocheng, Shao Liyan, Wei Zhiyun, Li Xingwang, Ji Jue, Yang Fengping, Wang Ti, Liu Jie, Wan Chunling, Li Baojie, Xu Yifeng, Feng Guoyin, He Lin, He Gua |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature genetics 2013 Jul 45 (7): 825-30. Carvill Gemma L, Heavin Sinéad B, Yendle Simone C, McMahon Jacinta M, O'Roak Brian J, Cook Joseph, Khan Adiba, Dorschner Michael O, Weaver Molly, Calvert Sophie, Malone Stephen, Wallace Geoffrey, Stanley Thorsten, Bye Ann M E, Bleasel Andrew, Howell Katherine B, Kivity Sara, Mackay Mark T, Rodriguez-Casero Victoria, Webster Richard, Korczyn Amos, Afawi Zaid, Zelnick Nathanel, Lerman-Sagie Tally, Lev Dorit, Møller Rikke S, Gill Deepak, Andrade Danielle M, Freeman Jeremy L, Sadleir Lynette G, Shendure Jay, Berkovic Samuel F, Scheffer Ingrid E, Mefford Heather |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25. Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur |
Spectrum of SCN8A-Related Epilepsy. Pediatric neurology briefs 2015 Feb 29 (2): 16. Morgan Lindsey A, Millichap John |
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 |
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2017 Nov 1-4. Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J, Kobayashi Jeff, Salomons Gajja S, Mercimek-Andrews Saad |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
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 |
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia open 2018 3 2 (2): 236-243. Fung Cheuk-Wing, Kwong Anna Ka-Yee, Wong Virginia Chun-N |
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort. Epilepsia 2019 7 60 (8): 1711-1720. Encinas Alejandra C, Moore Ida Ki M, Watkins Joseph C, Hammer Michael |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. Epilepsy research 2019 5 154 55-61. Xie Han, Su Wenting, Pei Jinrui, Zhang Yujia, Gao Kai, Li Jinliang, Ma Xiuwei, Zhang Yuehua, Wu Xiru, Jiang Yu |
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. Epilepsia open 2019 3 4 (1): 63-72. Tsang Mandy Ho-Yin, Leung Gordon Ka-Chun, Ho Alvin Chi-Chung, Yeung Kit-San, Mak Christopher Chun-Yu, Pei Steven Lim-Cho, Yu Mullin Ho-Chung, Kan Anita Sik-Yau, Chan Kelvin Yuen-Kwong, Kwong Karen Ling, Lee So-Lun, Yung Ada Wing-Yan, Fung Cheuk-Wing, Chung Brian Hon-Y |
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. BMC pediatrics 2019 11 19 (1): 400. Lin Kao-Min, Su Geng, Wang Fengpeng, Zhang Xiaobin, Wang Yuanqing, Ren Jun, Wang Xin, Yao Yi, Zhou Yi |
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. Epilepsy research 2019 10 168 106211. Oesch Gabriela, Bozarth Xiuhua Lia |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 2020 2 61 (3): 387-399. Brunklaus Andreas, Du Juanjiangmeng, Steckler Felix, Ghanty Ismael I, Johannesen Katrine M, Fenger Christina Dühring, Schorge Stephanie, Baez-Nieto David, Wang Hao-Ran, Allen Andrew, Pan Jen Q, Lerche Holger, Heyne Henrike, Symonds Joseph D, Zuberi Sameer M, Sanders Stephan, Sheidley Beth R, Craiu Dana, Olson Heather E, Weckhuysen Sarah, DeJonge Peter, Helbig Ingo, Van Esch Hilde, Busa Tiffany, Milh Matthieu, Isidor Bertrand, Depienne Christel, Poduri Annapurna, Campbell Arthur J, Dimidschstein Jordane, Møller Rikke S, Lal Denn |
Polymorphisms of Nav1.6 sodium channel, Brain-derived Neurotrophic Factor, Catechol-O-methyltransferase and Guanosine Triphosphate Cyclohydrolase 1 genes in trigeminal neuralgia. Clinical neurology and neurosurgery 2021 Aug 208 106880. Romero Jgaj, Costa Grazielle Mara Ferreira, Rocha Luiz Paulo Carvalho, Siqueira Srdt, Moreira Paula Rocha, Almeida-Leite Camila Mega |
Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse. Human molecular genetics 2021 Apr . Yu Wenxi, Smolen Corrine E, Hill Sophie F, Meisler Miriam |
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China. Brain : a journal of neurology 2022 3 145 (4): e28-e30. Johannesen Katrine M, Liu Yuanyuan, Gardella Elena, Lerche Holger, Møller Rikke |
Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China. Brain : a journal of neurology 2022 3 145 (4): e24-e27. Peng Bing-Wei, Tian Yang, Chen Li, Duan Li-Fen, Wang Xiu-Ying, Zhu Hai-Xia, Shi Kai-Li, Zheng Ke-Lu, Shen Hui-Ling, Liang Wei, Li Xiao-Jing, Chen Wen-Xio |
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability. Archives of Iranian medicine 2023 8 25 (12): 788-797. Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmaba |
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy. Epilepsia 2023 8 . Kyung Mi Chung, Joshua Hack, Jennifer Andrews, Maureen Galindo-Kelly, John Schreiber, Joseph Watkins, Michael F Hamm |
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain communications 2023 3 5 (2): fcad037. Themistocleous Andreas C, Baskozos Georgios, Blesneac Iulia, Comini Maddalena, Megy Karyn, Chong Sam, Deevi Sri V V, Ginsberg Lionel, Gosal David, Hadden Robert D M, Horvath Rita, Mahdi-Rogers Mohamed, Manzur Adnan, Mapeta Rutendo, Marshall Andrew, Matthews Emma, McCarthy Mark I, Reilly Mary M, Renton Tara, Rice Andrew S C, Vale Tom A, van Zuydam Natalie, Walker Suellen M, Woods Christopher Geoffrey, Bennett David L |
Genetic analysis of suicide: a sample study in Tuscany (Central Italy). Forensic sciences research 2023 2 7 (4): 790-797. Focardi Martina, Gualco Barbara, Pinchi Vilma, Gian-Aristide Norelli, Rensi Regina, Pelo Elisabetta, Carboni Ilaria, Ricci U |
Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis. Scientific reports 2023 11 13 (1): 20616. Felix O'Farrell, Benjamin Aleyakpo, Rima Mustafa, Xiyun Jiang, Rui Climaco Pinto, Paul Elliott, Ioanna Tzoulaki, Abbas Dehghan, Samantha H Y Loh, Jeff W Barclay, L Miguel Martins, Raha Pazo |
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