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Journal of Neurogenetics Volume 27, 2013 - Issue 1-2
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Original Articles

Presence of Epilepsy-Associated Variants in Large Exome Databases

Natalya S. CherepanovaDepartment of Pediatrics, The University of Iowa, Iowa City, Iowa, USA
,
Elizabeth LeslieDepartment of Pediatrics, The University of Iowa, Iowa City, Iowa, USA
,
Polly J. FergusonDepartment of Pediatrics, The University of Iowa, Iowa City, Iowa, USA
,
Michael J. BamshadDepartment of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
&
Alexander G. BassukDepartment of Pediatrics, The University of Iowa, Iowa City, Iowa, USACorrespondence[email protected]
Pages 1-4 | Received 28 Nov 2012, Accepted 29 Jan 2013, Published online: 25 Mar 2013

Citations (12)

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Tian Chen, Mohan Giri, Zhenyi Xia, Yadu Nanda Subedi & Yan Li. (2017) Genetic and epigenetic mechanisms of epilepsy: a review. Neuropsychiatric Disease and Treatment 13, pages 1841-1859.
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Articles from other publishers (11)

Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum & Swaroop Aradhya. (2019) Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open 4:3, pages 397-408.
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Sumi Elsa John, Dinu Antony, Muthukrishnan Eaaswarkhanth, Prashantha Hebbar, Arshad Mohamed Channanath, Daisy Thomas, Sriraman Devarajan, Jaakko Tuomilehto, Fahd Al-Mulla, Osama Alsmadi & Thangavel Alphonse Thanaraj. (2018) Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. Scientific Reports 8:1.
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Amanda S. Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard & Dianalee A. McKnight. (2018) Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia 59:5, pages 1062-1071.
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Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J. Miranda, Muhammad Farooq, Jens E.K. Nielsen, Lene Lavard Svendsen, Ditte B. Kjelgaard, Karen M. Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid M. Baig, Uzma Abdullah, Alfred P. Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanovic, Lana I.K. Al-Zehhawi, Sofia J. Peñalva, Bente Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K. Pal & Hans A. Dahl. (2016) Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular Syndromology 7:4, pages 210-219.
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Dorota Hoffman-Zacharska, Elżbieta Szczepanik, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Zofia Zalewska-Miszkurka, Renata Tataj & Jerzy Bal. (2015) From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit. Neurologia i Neurochirurgia Polska 49:4, pages 258-266.
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Valerio ContiPatrizia AracriLaura ChitiSimone BruscoFrancesco MariCarla MariniMaria AlbaneseAngela MarchiClaudio LiguoriFabio PlacidiAndrea RomigiAndrea BecchettiRenzo Guerrini. (2015) Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. Neurology 84:15, pages 1520-1528.
Crossref
Sanjay M. Sisodiya. (2015) Genetic screening and diagnosis in epilepsy?. Current Opinion in Neurology 28:2, pages 136-142.
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Deb Pal & Ingo Helbig. (2015) Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry . Epilepsia 56:2, pages 195-196.
Crossref
Ryan L. Subaran, Juliette M. Conte, William C. L. Stewart & David A. Greenberg. (2014) Pathogenic EFHC 1 mutations are tolerated in healthy individuals dependent on reported ancestry . Epilepsia 56:2, pages 188-194.
Crossref
I. Helbig, H. Harms & H. Muhle. (2014) Genetik epileptischer EnzephalopathienGenetics of epileptic encephalopathies. Zeitschrift für Epileptologie 27:2, pages 93-99.
Crossref
Ingo Helbig. 2014. Genetics of Epilepsy. Genetics of Epilepsy 253 278 .

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