Dataset Information

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

ABSTRACT: Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology. Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs). Results: We identified pathogenic or likely pathogenic variants in 53 patients (47.3%, 53/112), including five with pathogenic CNVs. Two putative pathogenic mosaic variants in SCN8A and KCNQ2 were also detected and validated. Those with neonatal onset (61.5%, 16/26) or early infantile onset (50.0%, 29/58) showed higher diagnostic rates than those with late infantile onset (28.5%, 8/28). The diagnostic rate was similar between patients with a specific syndrome (51.9%, 27/52) and those with no recognizable syndrome (43.3%, 26/60). Conclusion: Epilepsy gene panel testing identified a genetic cause in nearly half of the infantile onset epilepsy patients. Since the phenotypic spectrum is expanding and characterizing it at seizure onset is difficult, this group should be prioritized for epilepsy gene panel testing.

SUBMITTER: Jang SS

PROVIDER: S-EPMC6753218 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Jang Se Song SS Kim Soo Yeon SY Kim Hunmin H Hwang Hee H Chae Jong Hee JH Kim Ki Joong KJ Kim Jong-Il JI Lim Byung Chan BC

Frontiers in neurology 20190913

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology. Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs). Results: We identified pathogenic or likely pathogen ...[more]

PMID: 31572294

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Project description:Purpose:To measure fidelity with which a group seizure first aid training intervention was delivered within a pilot randomized controlled trial underway in the UK for adults with epilepsy who visit emergency departments (ED) and informal carers. Estimates of its effects, including on ED use, will be produced by the trial. Whilst hardly ever reported for trials of epilepsy interventions-only one publication on this topic exists-this study provides the information on treatment fidelity necessary to allow the trial's estimates to be accurately interpreted. This rare worked example of how fidelity can be assessed could also provide guidance sought by neurology trialists on how to assess fidelity. Methods:53 patients who had visited ED on ?2 occasions in prior year were recruited for the trial; 26 were randomized to the intervention. 7 intervention courses were delivered for them by one facilitator. Using audio recordings, treatment "adherence" and "competence" were assessed. Adherence was assessed by a checklist of the items comprising the intervention. Using computer software, competence was measured by calculating facilitator speech during the intervention (didacticism). Interrater reliability was evaluated by two independent raters assessing each course using the measures and their ratings being compared. Results:The fidelity measures were found to be reliable. For the adherence instrument, raters agreed 96% of the time, PABAK-OS kappa 0.91. For didacticism, raters' scores had an intraclass coefficient of 0.96. In terms of treatment fidelity, not only were courses found to have been delivered with excellent adherence (88% of its items were fully delivered) but also as intended they were highly interactive, with the facilitator speaking for, on average, 55% of course time. Conclusions:The fidelity measures used were reliable and showed that the intervention was delivered as attended. Therefore, any estimates of intervention effect will not be influenced by poor implementation fidelity.

Dataset Information

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Publications

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

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