Genetics of Epilepsy in Clinical Practice.
TLDR
Genetics should now be part of everyday clinical epilepsy practice and specific therapeutic decisions can now be made based on genetic findings, and this scenario of precision therapy is likely to increase in the coming years.Abstract:
Genetics should now be part of everyday clinical epilepsy practice. Good data exist to provide empiric risks based on epilepsy syndrome diagnosis. Investigation of the molecular basis of some epilepsies is now a practical clinical task and is of clear value to the patient and family. In some cases, specific therapeutic decisions can now be made based on genetic findings, and this scenario of precision therapy is likely to increase in the coming years.read more
Citations
More filters
Journal ArticleDOI
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Paul J. Dunn,Cassie L. Albury,Neven Maksemous,Miles C. Benton,Heidi G. Sutherland,Robert A. Smith,Larisa M. Haupt,Lyn R. Griffiths +7 more
TL;DR: In this article, a review of the most commonly used NGS techniques to determine their suitability for application to epilepsy genetic diagnostic testing is presented. But, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder, and an important parameter is the cost-effectiveness and specific diagnostic outcome of each technique.
Journal ArticleDOI
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Elizabeth E. Palmer,Deborah Schofield,Deborah Schofield,Rupendra N. Shrestha,Tejaswi Kandula,Tejaswi Kandula,Rebecca Macintosh,John A. Lawson,John A. Lawson,Ian Andrews,Ian Andrews,Hugo Sampaio,Hugo Sampaio,Alexandra M. Johnson,Alexandra M. Johnson,Michelle A. Farrar,Michelle A. Farrar,Michael Cardamone,Michael Cardamone,David Mowat,David Mowat,George Elakis,William Lo,Ying Zhu,Kevin Ying,Paula Morris,Jiang Tao,Jiang Tao,Kerith-Rae Dias,Michael F. Buckley,Marcel E. Dinger,Marcel E. Dinger,Mark J. Cowley,Mark J. Cowley,Tony Roscioli,Edwin P. Kirk,Edwin P. Kirk,Ann M. E. Bye,Ann M. E. Bye,Rani Sachdev,Rani Sachdev +40 more
TL;DR: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome and genome sequencing and gene panel testing can improve diagnostic yield but there is no cost‐effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways.
Journal ArticleDOI
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
TL;DR: This study confirms the utility of targeted gene panel analysis in epilepsy and highlights several factors to improve the yield of diagnostic genetic testing, including the critical need for clinical phenotype information and parental samples, microarray analysis for whole exon deletions and duplications, and frequent update of panels to incorporate new disease genes.
Journal ArticleDOI
LGI1 mutations in autosomal dominant partial epilepsy with auditory features
Journal ArticleDOI
Epilepsy: Is there hope?
TL;DR: There is evidence of improvement in the understanding of epilepsy and a clear progress in the management of epileptic seizures in recent times.
References
More filters
Journal ArticleDOI
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri,Gilad D. Evrony,Gilad D. Evrony,Xuyu Cai,Xuyu Cai,Christopher A. Walsh,Christopher A. Walsh +6 more
TL;DR: Findings suggest that somatic, perhaps brain-only, mosaic mutations may be important for other neurodevelopmental diseases, however, finding the mutations and the affected cells may require special study designs and technology.
Journal ArticleDOI
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.
Ingrid E. Scheffer,Kailash P. Bhatia,Iscia Lopes-Cendes,David R. Fish,C D Marsden,Eva Andermann,F. Andermann,Richard Desbiens,D Keene,Fernando Cendes +9 more
TL;DR: A phenotypically homogeneous group of five families from Australia, Britain and Canada, containing 47 affected individuals, was studied, and it was shown that the attacks were partial seizures with frontal lobe seizure semiology.
Journal ArticleDOI
Malformations of cortical development: clinical features and genetic causes
TL;DR: Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders.
Journal ArticleDOI
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Leanne M. Dibbens,Boukje de Vries,Simona Donatello,Sarah E. Heron,Bree L. Hodgson,Satyan Chintawar,Douglas E. Crompton,James N. Hughes,Susannah T. Bellows,Karl Martin Klein,Karl Martin Klein,Petra M.C. Callenbach,Mark A. Corbett,Alison Gardner,Sara Kivity,Xenia Iona,Brigid M. Regan,Claudia M Weller,Denis Crimmins,Terence J. O'Brien,Rosa Guerrero-López,John C. Mulley,François Dubeau,Laura Licchetta,Francesca Bisulli,Patrick Cossette,Paul Q. Thomas,Jozef Gecz,José M. Serratosa,Oebele F. Brouwer,Frederick Andermann,Eva Andermann,Arn M. J. M. van den Maagdenberg,Massimo Pandolfo,Samuel F. Berkovic,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer +37 more
TL;DR: Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families, establishing high frequency mutations as a common cause of familial focal epilepsies.
Journal ArticleDOI
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
Andreas Brunklaus,Andreas Brunklaus,Rachael Ellis,Eleanor Reavey,G.H. Forbes,Sameer M. Zuberi +5 more
TL;DR: The identification of factors influencing prognosis both aids counselling and encourages early, syndrome-specific therapy and prevention of status epilepticus with regular medication and emergency protocols is important.
Related Papers (5)
Rare copy number variants are an important cause of epileptic encephalopathies.
Heather C Mefford,Simone C. Yendle,Cynthia L. Hsu,Joseph Cook,Eileen Geraghty,Jacinta M McMahon,Orvar Eeg-Olofsson,Lynette G. Sadleir,Deepak Gill,Bruria Ben-Zeev,Tally Lerman-Sagie,Tally Lerman-Sagie,Mark T Mackay,Jeremy L. Freeman,Eva Andermann,James T Pelakanos,Ian Andrews,Geoffrey Wallace,Evan E. Eichler,Samuel F. Berkovic,Ingrid E. Scheffer +20 more