Literature DB >> 32203577

Early-onset genetic epilepsies reaching adult clinics.

David Lewis-Smith1,2, Colin A Ellis3,4, Ingo Helbig3,4,5,6, Rhys H Thomas1,2.   

Abstract

Entities:  

Mesh：

Year:  2020        PMID： 32203577      PMCID： PMC7089663          DOI： 10.1093/brain/awaa029

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  64 in total

1.  Phenotypic manifestations between male and female children with CDKL5 mutations.

Authors:  Jao-Shwann Liang; Hsin Huang; Jinn-Shyan Wang; Jyh-Feng Lu
Journal:  Brain Dev       Date:  2019-05-20       Impact factor: 1.961

2.  De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

3.  Epilepsy in a representative series of Rett syndrome.

Authors:  U Steffenburg; G Hagberg; B Hagberg
Journal:  Acta Paediatr       Date:  2001-01       Impact factor: 2.299

4.  Outcomes and comorbidities of SCN1A-related seizure disorders.

Authors:  Iris M de Lange; Boudewijn Gunning; Anja C M Sonsma; Lisette van Gemert; Marjan van Kempen; Nienke E Verbeek; Claudia Sinoo; Joost Nicolai; Nine V A M Knoers; Bobby P C Koeleman; Eva H Brilstra
Journal:  Epilepsy Behav       Date:  2018-12-05       Impact factor: 2.937

5.  The phenotype of SCN8A developmental and epileptic encephalopathy.

Authors:  Elena Gardella; Carla Marini; Marina Trivisano; Mark P Fitzgerald; Michael Alber; Katherine B Howell; Francesca Darra; Sabrina Siliquini; Bigna K Bölsterli; Silva Masnada; Anna Pichiecchio; Katrine M Johannesen; Birgit Jepsen; Elena Fontana; Gaia Anibaldi; Silvia Russo; Francesca Cogliati; Martino Montomoli; Nicola Specchio; Guido Rubboli; Pierangelo Veggiotti; Sandor Beniczky; Markus Wolff; Ingo Helbig; Federico Vigevano; Ingrid E Scheffer; Renzo Guerrini; Rikke S Møller
Journal:  Neurology       Date:  2018-08-31       Impact factor: 9.910

6.  Mortality in childhood-onset epilepsy.

Authors:  Anne T Berg; Shlomo Shinnar; Francine M Testa; Susan R Levy; Susan N Smith; Barbara Beckerman
Journal:  Arch Pediatr Adolesc Med       Date:  2004-12

7.  Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.

Authors:  Felippe Borlot; Bruno Ivo de Almeida; Shari L Combe; Danielle M Andrade; Francis M Filloux; Kenneth A Myers
Journal:  Epilepsia       Date:  2019-07-05       Impact factor: 5.864

8.  Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Authors:  Kameryn M Butler; Cristina da Silva; John J Alexander; Madhuri Hegde; Andrew Escayg
Journal:  Pediatr Neurol       Date:  2017-09-06       Impact factor: 3.372

Review 9.  The genetic landscape of the epileptic encephalopathies of infancy and childhood.

Authors:  Amy McTague; Katherine B Howell; J Helen Cross; Manju A Kurian; Ingrid E Scheffer
Journal:  Lancet Neurol       Date:  2015-11-17       Impact factor: 44.182

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
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  3 in total

1.  Late diagnoses of Dravet syndrome: How many individuals are we missing?

Authors:  Katri Silvennoinen; Clinda Puvirajasinghe; Kirsty Hudgell; Meneka K Sidhu; Helena Martins Custodio; Wendy D Jones; Simona Balestrini; Sanjay M Sisodiya
Journal:  Epilepsia Open       Date:  2021-08-05

2.  Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

Authors:  Dianalee McKnight; Sara L Bristow; Rebecca M Truty; Ana Morales; Molly Stetler; M Jody Westbrook; Kristina Robinson; Darlene Riethmaier; Felippe Borlot; Marissa Kellogg; Sean T Hwang; Anne Berg; Swaroop Aradhya
Journal:  Neurol Genet       Date:  2021-12-16

3.  Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.

Authors:  David Lewis-Smith; Shiva Ganesan; Peter D Galer; Katherine L Helbig; Sarah E McKeown; Margaret O'Brien; Pouya Khankhanian; Michael C Kaufman; Alexander K Gonzalez; Alex S Felmeister; Roland Krause; Colin A Ellis; Ingo Helbig
Journal:  Eur J Hum Genet       Date:  2021-05-24       Impact factor: 4.246
  3 in total

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