Obtaining genetic testing in pediatric epilepsy

Ream, Margie A.; Patel, Anup D.

doi:10.1111/epi.13122

Cited by 43 publications

(41 citation statements)

References 82 publications

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“…In the past decade, the number of genes implicated in epilepsy has been growing exponentially attributed to the advances of next generation sequencing (NGS) technology. These genetic discoveries have revolutionized the clinical practice to evaluate the molecular bases of epilepsy in epilepsy clinics5678910 and lay a foundation for the future development of precision medicine of epilepsy.…”

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confidence: 99%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children. Here we conducted a targeted exome-sequencing of 63 trios of Chinese epilepsy families using a custom-designed NGS panel that covers 412 known and candidate genes for epilepsy. We identified pathogenic and likely pathogenic variants in 15 of 63 (23.8%) families in known epilepsy genes including SCN1A, CDKL5, STXBP1, CHD2, SCN3A, SCN9A, TSC2, MBD5, POLG and EFHC1. More importantly, we identified likely pathologic variants in several novel candidate genes such as GABRE, MYH1, and CLCN6. Our results provide the evidence supporting the application of custom-designed NGS panel in clinic and indicate a conserved genetic susceptibility for epilepsy between Chinese and Caucasian children.

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confidence: 99%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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“…On account of the retrospective nature of the study, DNA microarray technology was not available for some of the patients. It is an inescapable conclusion that further genetic studies are needed, from targeted mutation analysis to extended genetic screening such as next‐generation sequencing and whole‐exome sequencing …”

Section: Discussionmentioning

confidence: 99%

“…It is an inescapable conclusion that further genetic studies are needed, from targeted mutation analysis to extended genetic screening such as next-generation sequencing and whole-exome sequencing. 35…”

Section: Discussionmentioning

confidence: 99%

Etiology, syndrome diagnosis, and cognition in childhood‐onset epilepsy: A population‐based study

et al. 2017

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SummaryObjectiveTo evaluate the prevalence of various etiologies of epilepsies and epilepsy syndromes and to estimate cognitive function in cases of childhood‐onset epilepsy.MethodsA population‐based retrospective registry study. We identified all medically treated children with epilepsy born in 1989–2007 in Finland's Kuopio University Hospital catchment area, combining data from the birth registry and the national registry of special‐reimbursement medicines. We reevaluated the epilepsy diagnoses and syndromes and gathered data on etiologies and cognitive impairment.ResultsWe identified 289 children with epilepsy. The annual incidence rate of epilepsies and epilepsy syndromes was 38 in 100,000, and the misdiagnosis rate was 3%. A specific etiology was identified in 65% of the cases, with a structural etiology accounting for 29% and a genetic or presumed genetic etiology for 32%. Most patients with unknown‐etiology epilepsy had focal epilepsy and were of normal intelligence. Intellectual disability was detected in 35% of cases, and only 17% in this group had an unknown etiology for the epilepsy. Electroclinical syndromes (mainly West syndrome) were recognized in 35% of the patients.SignificanceEpilepsy is a complex disease that encompasses many etiologies and rare syndromes. The etiology and specific epilepsy syndrome are important determinants of the outcome and key factors in treatment selection. Etiological diagnosis can be achieved for the majority of children and syndromic diagnosis for only a third.

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“…Bunların da yorumlanmaya ihtiyaçları vardır ve tanıya katkıları olmayabilir (Şekil 2). 94 WES'te sadece protein kodlayan bölgeler olan ekzonlar dizilenmektedir, genomdaki kodlama yapmayan bölgeler ve intronlar incelenmediğinden burada olabilecek mutasyonlar saptanamamaktadır. Frajil-X'teki gibi trinükleotid tekrarları, Angelman sendromundaki gibi anormal metilasyon durumları ve bazı büyük insersiyon, delesyon ve duplikasyonlar da WES incelemesinde saptanamayabilir.…”

Section: Epi̇lepsi̇de Geneti̇k Testleri̇n Avantaj Ve Dezavantajlariunclassified

New Diagnostic Approaches in Childhood Epilepsy: What Has Been Changed with Genetic Advances?: Review

Kurul¹

2016

Turkiye Klinikleri J Pediatr

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Obtaining genetic testing in pediatric epilepsy

Cited by 43 publications

References 82 publications

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Etiology, syndrome diagnosis, and cognition in childhood‐onset epilepsy: A population‐based study

New Diagnostic Approaches in Childhood Epilepsy: What Has Been Changed with Genetic Advances?: Review

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