Anesthetic Care of a Child Harboring the <i>KCNH2</i> Gene
Bibliographic record
Abstract
Epilepsy is a heterogeneous group of disorders characterized by recurrent and generally unprovoked seizures. Genetic mutations may play an important role in the etiology of epilepsy. Over the past few years, genetic mutations in various genes have been identified in patients with epilepsy. One of the more common mutations responsible for seizures involves the KCNH2 gene. The KCNH2 gene encodes the Kv11.1 protein, which involves the pore-forming subunit of a rapidly activating-delayed rectifier potassium channel. This channel plays an essential role in phases 2 and 3 of the cardiac action potential involving cardiac repolarization as well as being expressed in various parts of the central nervous system where it regulates neuronal function. As such, patients presenting with this gene mutation may be at risk not only for seizures, but also abnormalities in cardiac repolarization leading to lethal arrhythmias. We present an 11-year-old girl who required general anesthesia for magnetic resonance imaging as part of her evaluation for non-convulsive status epilepticus. An epilepsy gene panel evaluated revealed a KCNH2 gene mutation. End-organ involvement of KCNH2 gene mutations is presented, previous reports of anesthetic care for these patients are reviewed, and options for anesthetic care are discussed. J Med Cases. 2022;13(1):40-43 doi: https://doi.org/10.14740/jmc3870
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".