Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family <scp>3B</scp> ( <scp>H3</scp> ‐ <scp>3B</scp> ) Gene
Bibliographic record
Abstract
Heterozygous germline deleterious variants in the Histone 3 Family 3A and 3B genes H3-3A and H3-3B cause a neurodevelopmental disorder, characterized by developmental delay (DD)/intellectual disability (ID) and nonspecific craniofacial abnormalities. 1 Here we report a 13-year-old female with the previously undescribed phenotype of paroxysmal dyskinesia (PxD) and a de novo variant in H3-3B. Case ReportA 13-year-old female was referred for episodes of PxD.She was born to non-consanguineous parents, with no family history of movement disorders (MDs).She presented a history of DD, starting to walk at 2 years of age and experiencing language delay.Since the age of 6 years old, she has experienced paroxysmal episodes of hyperventilation followed by dystonic posturing mainly on the right side of her body, accompanied by choreiform movements of the face and arms (Video 1).The episodes mostly occurred in the morning, lasting from a few seconds to a minute, with over 50 episodes a day.Speaking became difficult during more severe episodes.Episodes were more frequent in the mornings and triggered mainly by strong emotions, such as excitement or frustrations and sometimes by voluntary movements, such as getting up.No nocturnal episodes were reported.She had appendicular hypotonia, ligamentous laxity, and buccolingual apraxia.The rest of the examination was normal with no MDs between episodes.A diagnosis of PxD was made at the age of 8.Carbamazepine up to a dosage of 400 mg/day resulted in no improvement.Clonazepam (maximum 0.75 mg/day) initially reduced episode frequency and intensity but lost effectiveness over time and was discontinued.Similarly, trials with L-dopa (75 mg/day), Trihexyphenidyl (15 mg/day), Acetazolamide (375 mg/day), and Levetiracetam (1250 mg/day) were ineffective.Interestingly, she had a sustained partial benefit to Topiramate (TPM) with a more than 50% reduction in the frequency of episodes.Currently, the patient takes 130 mg/day of
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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 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".