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Record W3087218534 · doi:10.1017/cjn.2020.203

Hyperammonemic Encephalopathy Associated with Perampanel: Case Report and Discussion

2020· letter· en· W3087218534 on OpenAlexaffvenue
Paula Marques, Quratulain Zulfiqar Ali, Arunan Selvarajah, Hanna Faghfoury, Richard Wennberg, Danielle M. Andrade

Bibliographic record

VenueCanadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 2020
Typeletter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsMount Sinai HospitalToronto Western HospitalUniversity of TorontoUniversity Health Network
Fundersnot available
KeywordsPerampanelContent (measure theory)MedicinePsychologyEpilepsyNeuroscienceMathematics

Abstract

fetched live from OpenAlex

Hyperammonemic encephalopathy (HE) can manifest with variable symptoms ranging from mild to severe such as lethargy, fatigue, seizure exacerbation, altered behavior, insomnia, impaired consciousness, gait instability, and flapping tremor.1,2,3 Valproate-induced HE has long been described, but can be under-recognized, as mild symptoms can mimic side effects of antiepileptic drugs (AEDs).Hyperammonemia may occur even if serum valproic acid (VPA) levels are within the reference range with normal or slightly elevated liver enzymes serum levels.2,3 Other AEDs have rarely been associated with HE.Adding Levetiracetam (LEV), Phenobarbital (PB), or Topiramate (TPM) to a patient already taking VPA has been reported to trigger HE. 1,4,5 TPM, in particular, may increase that risk 10-fold 5 Moreover, there are case reports describing HE in patients taking Carbamazepine (CBZ) either as monotherapy or in combination with other AEDs, 6 and with TPM monotherapy.7 We report a case of HE associated with Perampanel (PER).The patient is a 27-year-old male with a history of autism, microcephaly, developmental delay, and seizures associated with an 11 Mb pathogenic 8p23.3p23.1 deletion, involving CLN8, ARHGEF10, MCPH1, and RP1L1 genes.There was no family history of epilepsy, autism, or developmental delay.He was the product of a normal pregnancy and uncomplicated delivery at 36 weeks.His seizures began at the age of 8 years, consisting of focal onset with impaired awareness, evolving to bilateral tonicclonic convulsions.The focal symptoms were characterized by staring, cyanosis of the lips, frothing, and eye fluttering.He had several hospital admissions due to status epilepticus.At the age of 15 years, his seizures stopped on a combination of TPM 500 mg/ day and CBZ 800 mg/day.After 12 years of seizure freedom, antiepileptic drug tapering was attempted.CBZ was successfully weaned, but after reducing TPM his seizures recurred.CBZ was reintroduced, TPM was increased and lastly, phenytoin was added after one emergency room visit.As seizures did not abate, 8 months after adding phenytoin, PER was added and titrated up to 4 mg/day.One month after adding PER, his mother reported he was drowsy, fatigued, and began to have events described as "collapsing" episodes where he would lose consciousness and fall, with few associated jerks.His mother described these events as clearly different from his previous seizures.He was admitted to the hospital where blood work showed increased levels of ammonia: 139 umol/L (11-35) and slightly elevated liver enzymes (AST: 69 U/L [7-40], ALP: 92 U/L [40-150]).He was then transferred to the Epilepsy Monitoring Unit (EMU).During video EEG monitoring, two of his typical focal onset seizures with impaired awareness were recorded, without clear localization or lateralization on EEG.He also experienced one "collapsing" episode in the EMU, witnessed by a nurse, and

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 imitation

Not 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.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.012
Threshold uncertainty score0.024

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0030.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0040.003
Science and technology studies0.0040.003
Scholarly communication0.0030.005
Open science0.0020.002
Research integrity0.0120.007
Insufficient payload (model declined to judge)0.0050.002

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.

Opus teacher head0.020
GPT teacher head0.238
Teacher spread0.218 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

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".

Quick stats

Citations6
Published2020
Admission routes2
Has abstractyes

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