A citation-based method for searching scientific literature

Hyo Jeong Kim, Donghwa Yang, Se Hee Kim, Dongju Won, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang. Brain Dev 2021
Times Cited: 4







List of co-cited articles
20 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
John J Millichap, Kristen L Park, Tammy Tsuchida, Bruria Ben-Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M Levisohn, Eric Marsh, Srishti Nangia,[...]. Neurol Genet 2016
99
75

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
Ayako Goto, Atsushi Ishii, Mami Shibata, Yukiko Ihara, Edward C Cooper, Shinichi Hirose. Epilepsia 2019
25
75

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R F Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova,[...]. Ann Neurol 2012
290
75

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Gökce Orhan, Merle Bock, Dorien Schepers, Elena I Ilina, Stephanie Nadine Reichel, Heidi Löffler, Nicole Jezutkovic, Sarah Weckhuysen, Simone Mandelstam, Arvid Suls,[...]. Ann Neurol 2014
124
75

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S Møller, Sabine Grønborg, An-Sofie Schoonjans, Berten Ceulemans, Sinead B Heavin,[...]. Neurology 2013
130
75

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
75

Early and effective treatment of KCNQ2 encephalopathy.
Tiziana Pisano, Adam L Numis, Sinéad B Heavin, Sarah Weckhuysen, Marco Angriman, Arvid Suls, Barbara Podesta, Ronald L Thibert, Kevin A Shapiro, Renzo Guerrini,[...]. Epilepsia 2015
111
75

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Vincenzo Barrese, Michele Migliore, Maria Roberta Cilio, Maurizio Taglialatela. Proc Natl Acad Sci U S A 2013
109
50

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela. J Neurosci 2015
89
50

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
N A Singh, C Charlier, D Stauffer, B R DuPont, R J Leach, R Melis, G M Ronen, I Bjerre, T Quattlebaum, J V Murphy,[...]. Nat Genet 1998
876
50

Clinical and genetic spectrum of a large cohort of children with epilepsy in China.
Lin Yang, Yanting Kong, Xinran Dong, Liyuan Hu, Yifeng Lin, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang,[...]. Genet Med 2019
47
50

Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio. Neurology 2017
74
50

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.
Inn-Chi Lee, Tung-Ming Chang, Jao-Shwann Liang, Shuan-Yow Li. Mol Genet Genomic Med 2019
8
50

Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Jiaren Zhang, Eung Chang Kim, Congcong Chen, Erik Procko, Shashank Pant, Kin Lam, Jaimin Patel, Rebecca Choi, Mary Hong, Dhruv Joshi,[...]. Sci Rep 2020
12
50

Sodium channel blockers in KCNQ2-encephalopathy: Lacosamide as a new treatment option.
Susanne Schubert-Bast, Peter Hofstetter, Doris Fischer, Rolf Schloesser, Georgia Ramantani, Matthias Kieslich. Seizure 2017
6
50

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier,[...]. Am J Med Genet A 2015
23
50

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
M Kuersten, M Tacke, L Gerstl, H Hoelz, C V Stülpnagel, I Borggraefe. Eur J Med Genet 2020
14
50

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H Libenson, Kristina Julich,[...]. Ann Neurol 2017
62
50

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Taku Nakagawa, Takanari Fujii, Kenji Sugai, Kaoru Imai, Tami Uster,[...]. Epilepsia 2013
132
50

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Heron, Maryline Carneiro,[...]. Orphanet J Rare Dis 2013
59
50

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst,[...]. J Med Genet 2016
120
25

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski. Genome Res 2017
80
25

Predicting the functional impact of protein mutations: application to cancer genomics.
Boris Reva, Yevgeniy Antipin, Chris Sander. Nucleic Acids Res 2011
25

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
Hashem A Shihab, Julian Gough, David N Cooper, Peter D Stenson, Gary L A Barker, Keith J Edwards, Ian N M Day, Tom R Gaunt. Hum Mutat 2013
616
25

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.
Hashem A Shihab, Julian Gough, Matthew Mort, David N Cooper, Ian N M Day, Tom R Gaunt. Hum Genomics 2014
88
25

Structural Basis of Human KCNQ1 Modulation and Gating.
Ji Sun, Roderick MacKinnon. Cell 2020
68
25

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella,[...]. Am J Hum Genet 2017
52
25

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
25

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2016
352
25

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Sarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L Carroll, Sabine Grønborg, Yong-Hui Jiang, Nishtha Joshi, Megan Kelly, David A Koolen, Mohamad A Mikati,[...]. Epilepsia 2017
33
25

Potassium channel genes and benign familial neonatal epilepsy.
Snezana Maljevic, Holger Lerche. Prog Brain Res 2014
41
25

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Francesco Miceli, Pasquale Striano, Maria Virginia Soldovieri, Antonina Fontana, Rosaria Nardello, Angela Robbiano, Giulia Bellini, Maurizio Elia, Federico Zara, Maurizio Taglialatela,[...]. Epilepsia 2015
42
25

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
Nanda A Singh, Peter Westenskow, Carole Charlier, Chris Pappas, Jonathan Leslie, Jessica Dillon, V Elving Anderson, Michael C Sanguinetti, Mark F Leppert. Brain 2003
199
25


A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
C Charlier, N A Singh, S G Ryan, T B Lewis, B E Reus, R J Leach, M Leppert. Nat Genet 1998
728
25

Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Tristan T Sands, Francesco Miceli, Gaetan Lesca, Anita E Beck, Lynette G Sadleir, Daniel K Arrington, Bitten Schönewolf-Greulich, Sébastien Moutton, Anna Lauritano, Piera Nappi,[...]. Ann Neurol 2019
23
25

Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
25

A potassium channel mutation in neonatal human epilepsy.
C Biervert, B C Schroeder, C Kubisch, S F Berkovic, P Propping, T J Jentsch, O K Steinlein. Science 1998
795
25


Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Julia Oyrer, Snezana Maljevic, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid. Pharmacol Rev 2018
79
25

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati,[...]. Epilepsia 2017
37
25


A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L Heinzen, Arthur M Mandel, Natalie Lippa, Louise Bier, David B Goldstein, Edward C Cooper,[...]. Front Physiol 2020
1
100

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford,[...]. Epilepsia 2018
34
25

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
25


Genetic intolerance analysis as a tool for protein science.
Geoffrey C Li, Eliot T C Forster-Benson, Charles R Sanders. Biochim Biophys Acta Biomembr 2020
4
25

Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.
Xin Xia, Qiansen Zhang, Yanyan Jia, Yilai Shu, Juanmei Yang, Huaiyu Yang, Zhiqiang Yan. Hear Res 2020
8
25

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.
Robert S Fisher, J Helen Cross, Jacqueline A French, Norimichi Higurashi, Edouard Hirsch, Floor E Jansen, Lieven Lagae, Solomon L Moshé, Jukka Peltola, Eliane Roulet Perez,[...]. Epilepsia 2017
999
25

Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella Maria Teresa Canzoniero, Beth Kline-Fath, Edward C Cooper, Charu Venkatesan, Maurizio Taglialatela. Int J Mol Sci 2019
8
25


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.