Literature DB >> 30078767

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Kenneth A Myers1, Ingrid E Scheffer2, Samuel F Berkovic1.   

Abstract

Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good outcome to severe epileptic encephalopathies. Here, we review the spectrum of epilepsy phenotypes, the genetic architecture of GEFS+, and the implicated genes. Using an illustrative clinical case study, we describe important steps in managing patients with GEFS+: making the diagnosis of GEFS+, appropriate genetic testing, and counselling.

Entities:  

Keywords:  GEFS+; SCN1A; SCN1B; epilepsy; febrile seizures; genetic epilepsy with febrile seizures plus

Mesh:

Year:  2018        PMID: 30078767     DOI: 10.1684/epd.2018.0985

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN: 1294-9361            Impact factor:   1.819


  10 in total

1.  Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Authors:  Ayberk Türkyılmaz; Emine Tekin; Oğuzhan Yaralı; Alper Han Çebi
Journal:  Mol Syndromol       Date:  2022-02-22

2.  Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Authors:  Sarah E Heron; Brigid M Regan; Rebekah V Harris; Alison E Gardner; Matthew J Coleman; Mark F Bennett; Bronwyn E Grinton; Katherine L Helbig; Michael R Sperling; Sheryl Haut; Eric B Geller; Peter Widdess-Walsh; James T Pelekanos; Melanie Bahlo; Slavé Petrovski; Erin L Heinzen; Michael S Hildebrand; Mark A Corbett; Ingrid E Scheffer; Jozef Gécz; Samuel F Berkovic
Journal:  Neurology       Date:  2021-03-23       Impact factor: 9.910

Review 3.  Management of Pediatric Febrile Seizures.

Authors:  Daniela Laino; Elisabetta Mencaroni; Susanna Esposito
Journal:  Int J Environ Res Public Health       Date:  2018-10-12       Impact factor: 3.390

4.  Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus.

Authors:  Jieun Choi; Sun Ah Choi; Soo Yeon Kim; Hunmin Kim; Byung Chan Lim; Hee Hwang; Jong Hee Chae; Ki Joong Kim; Sohee Oh; Eun Young Kim; Jeon Soo Shin
Journal:  J Clin Neurol       Date:  2019-10       Impact factor: 3.077

Review 5.  SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Authors:  Jiangwei Ding; Xinxiao Li; Haiyan Tian; Lei Wang; Baorui Guo; Yangyang Wang; Wenchao Li; Feng Wang; Tao Sun
Journal:  Front Neurol       Date:  2021-12-24       Impact factor: 4.003

6.  Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Authors:  Ana Victoria Marco Hernández; Miguel Tomás Vila; Alfonso Caro Llopis; Sandra Monfort; Francisco Martinez
Journal:  Front Neurol       Date:  2021-11-30       Impact factor: 4.003

Review 7.  Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions.

Authors:  Piero Pavone; Xena Giada Pappalardo; Enrico Parano; Raffaele Falsaperla; Simona Domenica Marino; John Kane Fink; Martino Ruggieri
Journal:  Front Pediatr       Date:  2022-04-21       Impact factor: 3.569

Review 8.  The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.

Authors:  Giovanni Battista Dell'Isola; Valerio Vinti; Antonella Fattorusso; Giorgia Tascini; Elisabetta Mencaroni; Giuseppe Di Cara; Pasquale Striano; Alberto Verrotti
Journal:  Front Neurol       Date:  2022-01-17       Impact factor: 4.003

Review 9.  Precision medicine and therapies of the future.

Authors:  Sanjay M Sisodiya
Journal:  Epilepsia       Date:  2020-07-24       Impact factor: 6.740

Review 10.  Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Authors:  Allan Bayat; Michael Bayat; Guido Rubboli; Rikke S Møller
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096

  10 in total

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