Evidence map›Paper›PMID 37090940›Full record

ArticleNeurology. Genetics2023

New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?

Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Febrile infection-related epilepsy syndrome (FIRES) in adults: a case report and review of factors associated with survival.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 3 countries.

Elisabetta IndelicatoCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.ORCID https://orcid.org/0000-0003-0217-8630
Johannes PfeilstetterCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Michael ZechCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Iris UnterbergerCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.ORCID https://orcid.org/0000-0001-6408-5777
Julia WanschitzCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Steffen BerweckCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Sylvia BoeschCenter for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Innsbruck Medical University · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: The gene MT-TF encodes the mitochondrial tRNA of phenylalanine (tRNA Methods: By means of whole-exome sequencing (WES), we detected a novel likely causative MT-TF variant (m.610T>C) in a family presenting with a combined movement disorder and epilepsy phenotype. The variant was present at 97% heteroplasmy in the peripheral blood and in a homoplasmic state in skin fibroblast-derived DNA. Results: The inaugural manifestation in the index patient was new-onset refractory myoclonic status epilepticus (NORSE) at the age of 29 years. Her son presented later with developmental regression and myoclonic epilepsy. On the beginning of valproate because of ongoing myoclonic seizures, the index patient developed a generalized brain edema requiring bilateral craniotomy. In the course of the disease, epileptic manifestations abated, and both patients developed a severe movement disorder phenotype with prominent spastic-dystonic features. Both patients did not display any further sign of mitochondrial disease. Discussion: Our report expands the clinicogenetic background of tRNA

Identifiers

PMID37090940
PMCPMC10117698
OpenAlexW4324321295

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.