Joseph D Symonds, Sameer M Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O'Regan, Stewart MacLeod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T Pilz, Jay Shetty, Liam Dorris, Ishaq Abu-Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A Morrison, Lesley Nairn, Meghan M Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret Wilson. Brain 2019
Times Cited: 135
Times Cited: 135
Times Cited
Times Co-cited
Similarity
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé,[...]. Epilepsia 2017
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé,[...]. Epilepsia 2017
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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
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
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Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee A McKnight. Epilepsia 2018
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee A McKnight. Epilepsia 2018
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Mortality in Dravet syndrome.
Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie,[...]. Epilepsy Res 2016
Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie,[...]. Epilepsy Res 2016
16
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.
Elaine C Wirrell, Linda Laux, Elizabeth Donner, Nathalie Jette, Kelly Knupp, Mary Anne Meskis, Ian Miller, Joseph Sullivan, Michelle Welborn, Anne T Berg. Pediatr Neurol 2017
Elaine C Wirrell, Linda Laux, Elizabeth Donner, Nathalie Jette, Kelly Knupp, Mary Anne Meskis, Ian Miller, Joseph Sullivan, Michelle Welborn, Anne T Berg. Pediatr Neurol 2017
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Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright. N Engl J Med 2017
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright. N Engl J Med 2017
13
Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
Zhou Han, Chunling Chen, Anne Christiansen, Sophina Ji, Qian Lin, Charles Anumonwo, Chante Liu, Steven C Leiser, Meena, Isabel Aznarez,[...]. Sci Transl Med 2020
Zhou Han, Chunling Chen, Anne Christiansen, Sophina Ji, Qian Lin, Charles Anumonwo, Chante Liu, Steven C Leiser, Meena, Isabel Aznarez,[...]. Sci Transl Med 2020
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Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
A Brunklaus, R Ellis, E Reavey, G H Forbes, S M Zuberi. Brain 2012
A Brunklaus, R Ellis, E Reavey, G H Forbes, S M Zuberi. Brain 2012
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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Scott T Demarest, Heather E Olson, Angela Moss, Elia Pestana-Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C Swanson, Katherine D Riley, Grace A Bazin, Katie Angione,[...]. Epilepsia 2019
Scott T Demarest, Heather E Olson, Angela Moss, Elia Pestana-Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C Swanson, Katherine D Riley, Grace A Bazin, Katie Angione,[...]. Epilepsia 2019
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Incidence of Dravet Syndrome in a US Population.
Yvonne W Wu, Joseph Sullivan, Sharon S McDaniel, Miriam H Meisler, Eileen M Walsh, Sherian Xu Li, Michael W Kuzniewicz. Pediatrics 2015
Yvonne W Wu, Joseph Sullivan, Sharon S McDaniel, Miriam H Meisler, Eileen M Walsh, Sherian Xu Li, Michael W Kuzniewicz. Pediatrics 2015
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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
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
11
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
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Heather E Olson, Scott T Demarest, Elia M Pestana-Knight, Lindsay C Swanson, Sumaiya Iqbal, Dennis Lal, Helen Leonard, J Helen Cross, Orrin Devinsky, Tim A Benke. Pediatr Neurol 2019
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14
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni,[...]. Eur J Hum Genet 2013
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The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
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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
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
11
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
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
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Epilepsy and developmental disorders: Next generation sequencing in the clinic.
Joseph D Symonds, Amy McTague. Eur J Paediatr Neurol 2020
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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard,[...]. Brain 2017
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10
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lieven Lagae, Joseph Sullivan, Kelly Knupp, Linda Laux, Tilman Polster, Marina Nikanorova, Orrin Devinsky, J Helen Cross, Renzo Guerrini, Dinesh Talwar,[...]. Lancet 2019
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10
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns.
Nicole Villas, Mary Anne Meskis, Sue Goodliffe. Epilepsy Behav 2017
Nicole Villas, Mary Anne Meskis, Sue Goodliffe. Epilepsy Behav 2017
12
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Stephanie Fehr, Kingsley Wong, Richard Chin, Simon Williams, Nick de Klerk, David Forbes, Rahul Krishnaraj, John Christodoulou, Jenny Downs, Helen Leonard. Neurology 2016
Stephanie Fehr, Kingsley Wong, Richard Chin, Simon Williams, Nick de Klerk, David Forbes, Rahul Krishnaraj, John Christodoulou, Jenny Downs, Helen Leonard. Neurology 2016
15
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
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9
22
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight. Genet Med 2018
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight. Genet Med 2018
9
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Iris M de Lange, Boudewijn Gunning, Anja C M Sonsma, Lisette van Gemert, Marjan van Kempen, Nienke E Verbeek, Joost Nicolai, Nine V A M Knoers, Bobby P C Koeleman, Eva H Brilstra. Epilepsia 2018
Iris M de Lange, Boudewijn Gunning, Anja C M Sonsma, Lisette van Gemert, Marjan van Kempen, Nienke E Verbeek, Joost Nicolai, Nine V A M Knoers, Bobby P C Koeleman, Eva H Brilstra. Epilepsia 2018
16
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
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11
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
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
9
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
8
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
8
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels,[...]. Neurology 2017
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels,[...]. Neurology 2017
11
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
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,[...]. Mol Syndromol 2016
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,[...]. Mol Syndromol 2016
11
The three stages of epilepsy in patients with CDKL5 mutations.
Nadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motte, Delphine Héron, Marie Ange N'guyen Morel,[...]. Epilepsia 2008
Nadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motte, Delphine Héron, Marie Ange N'guyen Morel,[...]. Epilepsia 2008
8
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Linda S Weaving, John Christodoulou, Sarah L Williamson, Kathie L Friend, Olivia L D McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J Pelka, Patrick P L Tam,[...]. Am J Hum Genet 2004
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8
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain,[...]. Epilepsia 2020
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain,[...]. Epilepsia 2020
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Dravet syndrome and its mimics: Beyond SCN1A.
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus. Epilepsia 2017
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus. Epilepsia 2017
9
Mortality in Dravet syndrome: A review.
Sharon Shmuely, Sanjay M Sisodiya, W Boudewijn Gunning, Josemir W Sander, Roland D Thijs. Epilepsy Behav 2016
Sharon Shmuely, Sanjay M Sisodiya, W Boudewijn Gunning, Josemir W Sander, Roland D Thijs. Epilepsy Behav 2016
9
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrews. Neuroscience 2019
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrews. Neuroscience 2019
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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Saadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David Callen, Elizabeth J Donner, Cecil D Hahn, Peter Kannu, Jeff Kobayashi, Berge A Minassian,[...]. Epilepsia 2015
Saadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David Callen, Elizabeth J Donner, Cecil D Hahn, Peter Kannu, Jeff Kobayashi, Berge A Minassian,[...]. Epilepsia 2015
8
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas,[...]. Orphanet J Rare Dis 2013
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas,[...]. Orphanet J Rare Dis 2013
8
Comorbidities and predictors of health-related quality of life in Dravet syndrome.
Andreas Brunklaus, Liam Dorris, Sameer M Zuberi. Epilepsia 2011
Andreas Brunklaus, Liam Dorris, Sameer M Zuberi. Epilepsia 2011
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Recent Advances in the Drug Treatment of Dravet Syndrome.
Elaine C Wirrell, Rima Nabbout. CNS Drugs 2019
Elaine C Wirrell, Rima Nabbout. CNS Drugs 2019
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion,[...]. Am J Hum Genet 2017
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion,[...]. Am J Hum Genet 2017
7
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
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
14
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.
Ara Ko, Song Ee Youn, Se Hee Kim, Joon Soo Lee, Sangwoo Kim, Jong Rak Choi, Heung Dong Kim, Seung-Tae Lee, Hoon-Chul Kang. Epilepsy Res 2018
Ara Ko, Song Ee Youn, Se Hee Kim, Joon Soo Lee, Sangwoo Kim, Jong Rak Choi, Heung Dong Kim, Seung-Tae Lee, Hoon-Chul Kang. Epilepsy Res 2018
13
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
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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
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Phenotypic manifestations between male and female children with CDKL5 mutations.
Jao-Shwann Liang, Hsin Huang, Jinn-Shyan Wang, Jyh-Feng Lu. Brain Dev 2019
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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.