Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy

Costain, Gregory; Cordeiro, Dawn; Matviychuk, Diana; Mercimek‐Andrews, Saadet

doi:10.1016/j.neuroscience.2019.08.016

Cited by 78 publications

(71 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This (Vanoye et al, 2014) *Non genetic origin mutations reported: Mutations described through clinical diagnosis, but the mutation type (Mendelian or de novo) were not reported, mainly due to the lack of parents to perform genotyping and difficulty in contacting the family. DII (S1) Missense NR (Butler et al, 2017b;Hewson et al, 2018;Lindy et al, 2018;Costain et al, 2019;Johannesen et al, 2019) T767I DII (S1) Missense Decreased current density Increased current amplitude provokes by voltage ramp protocol (Estacion et al, 2014;Gardella et al, 2018;Lindy et al, (Fung et al, 2015;Zhang et al, 2015;Lindy et al, 2018;Kim et al, 2019;Tsang et al, 2019;Pan and Cummins, 2020;Schreiber et al, DIII (S6)-DIV (S1) Missense NR (Pons et al, 2018;Denis et al, 2019) G1475R DIII (S6)-DIV (S1) Missense Enhanced persistent current (Hussain et al, 2016;Ortiz Madinaveitia et al, 2017;Parrini et al, 2017;Wang et al, 2017a;Gardella et al, 2018;Lindy et al, 2018;Xiao et al, 2018;Kim et al, 2019;Trivisano et al, 2019;Zaman et al, 2019;Ranza et al, 2020;Schreiber et al, 2020) G1476S DIII (S6)-DIV (S1) Missense NR (Lindy et al, 2018) I1479V DIII (S6)-DIV (S1) Missense NR (Larsen et al, 2015;Lindy et al, 2018;Schreiber et al, 2020) E1483K DIII (S6)-DIV (S1) Missense NR (Johannesen et al, 20...…”

Section: Nav16mentioning

confidence: 99%

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

et al. 2020

View full text Add to dashboard Cite

Epilepsy is a disease characterized by abnormal brain activity and a predisposition to generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and economic impacts for the patient. There are several known causes for epilepsy; one of them is the malfunction of ion channels, resulting from mutations. Voltage-gated sodium channels (NaV) play an essential role in the generation and propagation of action potential, and malfunction caused by mutations can induce irregular neuronal activity. That said, several genetic variations in NaV channels have been described and associated with epilepsy. These mutations can affect channel kinetics, modifying channel activation, inactivation, recovery from inactivation, and/or the current window. Among the NaV subtypes related to epilepsy, NaV1.1 is doubtless the most relevant, with more than 1500 mutations described. Truncation and missense mutations are the most observed alterations. In addition, several studies have already related mutated NaV channels with the electrophysiological functioning of the channel, aiming to correlate with the epilepsy phenotype. The present review provides an overview of studies on epilepsy-associated mutated human NaV1.1, NaV1.2, NaV1.3, NaV1.6, and NaV1.7.

show abstract

Section: Nav16mentioning

confidence: 99%

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Similarly, ES and GS have both been shown to have higher diagnostic yields than targeted panels in children with suspected genetic diseases and with epilepsy. [40][41][42] However, ES and GS, by surveying across the entire genome, are more likely to identify variants of unknown significance (VUS) and incidental or secondary findings. 43 The use of population sequence data and stringent variant curation is thus essential for accurate genetic diagnosis from ES and GS.…”

Section: Gsmentioning

confidence: 99%

Genetic testing for kidney disease of unknown etiology

Hays

Groopman

Gharavi

2020

Kidney International

View full text Add to dashboard Cite

In many cases of chronic kidney disease, the cause of disease remains unknown despite a thorough nephrologic workup. Genetic testing has revolutionized many areas of medicine and promises to empower diagnosis and targeted management of such cases of kidney disease of unknown etiology. Recent studies using genetic testing have demonstrated that Mendelian etiologies account for approximately 20% of cases of kidney disease of unknown etiology. Although genetic testing has significant benefits, including tailoring of therapy, informing targeted workup, detecting extrarenal disease, counseling patients and families, and redirecting care, it also has important limitations and risks that must be considered.

show abstract

“…Table 2 lists metabolic investigations. Disease-specific treatments to improve outcomes in inherited metabolic disorders are summarized in Table 3 [ 5 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. We provide a list of disorders based on the specific clinical features in Figure 1 [ 36 ].…”

Section: Introductionmentioning

confidence: 99%

Inherited Metabolic Disorders Presenting with Ataxia

Silver

Mercimek‐Andrews

2020

IJMS

Self Cite

View full text Add to dashboard Cite

Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, and other types of movement disorders. Seizures and a history of developmental regression especially are important clinical denominators to consider an underlying inherited metabolic disorder in a patient with ataxia. Some of the inherited metabolic disorders have disease specific treatments to improve outcomes or prevent early death. Early diagnosis and treatment affect positive neurodevelopmental outcomes, so it is important to think of inherited metabolic disorders in the differential diagnosis of ataxia.

show abstract

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy

Cited by 78 publications

References 20 publications

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

Genetic testing for kidney disease of unknown etiology

Inherited Metabolic Disorders Presenting with Ataxia

Contact Info

Product

Resources

About