Literature DB >> 29741207

Genetic generalized epilepsies.

Saul A Mullen1,2, Samuel F Berkovic1.   

Abstract

The genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability. Common variant associations are starting to emerge from genome-wide association studies but do not yet explain a large proportion of GGEs. Although currently genetic testing is not likely to yield a diagnosis for most patients with GGEs, it can be of great importance in specific clinical situations. Providers should consider the individual patient's history in determining the utility of genetic testing. Wiley Periodicals, Inc.
© 2018 International League Against Epilepsy.

Entities:  

Keywords:  generalized epilepsy; genetics

Mesh:

Substances:

Year:  2018        PMID: 29741207     DOI: 10.1111/epi.14042

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  13 in total

Review 1.  Driving status of patients with generalized spike-wave on EEG but no clinical seizures.

Authors:  Prince Antwi; Ece Atac; Jun Hwan Ryu; Christopher Andrew Arencibia; Shiori Tomatsu; Neehan Saleem; Jia Wu; Michael J Crowley; Barbara Banz; Federico E Vaca; Heinz Krestel; Hal Blumenfeld
Journal:  Epilepsy Behav       Date:  2018-12-21       Impact factor: 2.937

Review 2.  Demystifying idiopathic interstitial pneumonia: time for more etiology-focused nomenclature in interstitial lung disease.

Authors:  Nevins W Todd; Sergei P Atamas; Stella E Hines; Irina G Luzina; Nirav G Shah; Edward J Britt; Andrew J Ghio; Jeffrey R Galvin
Journal:  Expert Rev Respir Med       Date:  2022-01-31       Impact factor: 3.772

Review 3.  Genetic generalized epilepsies in adults - challenging assumptions and dogmas.

Authors:  Bernd J Vorderwülbecke; Britta Wandschneider; Yvonne Weber; Martin Holtkamp
Journal:  Nat Rev Neurol       Date:  2021-11-26       Impact factor: 42.937

4.  An Integrated Multi-Omic Network Analysis Identifies Seizure-Associated Dysregulated Pathways in the GAERS Model of Absence Epilepsy.

Authors:  Anna Harutyunyan; Debbie Chong; Rui Li; Anup D Shah; Zahra Ali; Cheng Huang; Christopher K Barlow; Piero Perucca; Terence J O'Brien; Nigel C Jones; Ralf B Schittenhelm; Alison Anderson; Pablo M Casillas-Espinosa
Journal:  Int J Mol Sci       Date:  2022-05-28       Impact factor: 6.208

Review 5.  Genetics and Extracellular Vesicles of Pediatrics Sleep Disordered Breathing and Epilepsy.

Authors:  Abdelnaby Khalyfa; David Sanz-Rubio
Journal:  Int J Mol Sci       Date:  2019-11-04       Impact factor: 5.923

6.  Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms.

Authors:  Jing Gan; Qianyun Cai; Peter Galer; Dan Ma; Xiaolu Chen; Jichong Huang; Shan Bao; Rong Luo
Journal:  Medicine (Baltimore)       Date:  2019-08       Impact factor: 1.817

7.  24-Hour video EEG in the evaluation of the first unprovoked seizure.

Authors:  Naim Haddad; Gayane Melikyan; Gonzalo Alarcon; Yanal Shaheen; Maria Siddiqi; Elfateh Ali; Boulenouar Mesraoua; Hassan AlHail; Abdulaziz Al-Abdulghani; Abdulraheem Alrabi; Anitha Syamala; Farhana Kazi; Ziyad Mahfoud
Journal:  Clin Neurophysiol Pract       Date:  2021-04-01

Review 8.  Reflex Epilepsy.

Authors:  Samrina Hanif; Shane T Musick
Journal:  Aging Dis       Date:  2021-07-01       Impact factor: 6.745

9.  Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.

Authors:  Lorenzo Caciagli; Britta Wandschneider; Maria Centeno; Christian Vollmar; Sjoerd B Vos; Karin Trimmel; Lili Long; Fenglai Xiao; Alexander J Lowe; Meneka K Sidhu; Pamela J Thompson; Gavin P Winston; John S Duncan; Matthias J Koepp
Journal:  Epilepsia       Date:  2020-06-25       Impact factor: 6.740

Review 10.  Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Authors:  Sarita Thakran; Debleena Guin; Pooja Singh; Priyanka Singh; Samiksha Kukal; Chitra Rawat; Saroj Yadav; Suman S Kushwaha; Achal K Srivastava; Yasha Hasija; Luciano Saso; Srinivasan Ramachandran; Ritushree Kukreti
Journal:  Int J Mol Sci       Date:  2020-10-21       Impact factor: 5.923

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