Additional file 1 of De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
Bibliographic record
Abstract
Additional file 1: Fig. S1. Electrophysiological properties of Nav1.6 variant expressed in the absence of Navb2. a Representative sodium current traces recorded from cells expressing wild-type Nav1.6 (Nav1.6wt, black traces) and Nav1.6 duplication variant (Nav1.6dup, red traces). b Corresponding mean current–voltage (I/V) relationship. c Corresponding mean maximal macroscopic conductance (Gmax) values obtained from the fit of the I/V curves with the modified Boltzmann Eq. (1). d Corresponding mean normalized voltage dependence of activation. Inset shows corresponding mean half-activation potential values obtained from the fit of the activation curve with the modified Boltzmann Eq. (2). e Mean normalized voltage-dependence of steady-state inactivation for Nav1.6wt and Nav1.6dup. Inset shows corresponding mean half-inactivation potential values obtained from the fit of the inactivation curves with the two-state Boltzmann function (3). f Mean normalized recovery from inactivation kinetics. Inset shows corresponding mean time constant t values of recovery from inactivation obtained by fitting recovery curves with a single-exponential function (4). Table S1. Electrophysiological properties of human Nav1.6 and Cav3.2 variants expressed in tsA-201 cells. *p < 0.05.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.022 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.869 | 0.104 |
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 source (direct Gemma or distilled Codex), 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".