Evidence map›Paper›PMID 42040244›Full record

ArticleNeurology. Genetics2026

Elicited Repetitive Daily Blindness Associated With Gain-of-Function

Sandrine Cestèle, Alexander James Harper, Sebastian Marra, Nathalie Leroudier, Raffaella Rusconi, Sandra Dhifallah, Iain A Horrocks, Fenella Jane Kirkham, Iona Margaret Rose Morgan, Jaspal Singh and 5 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Hemiplegic migraine: genetics and pathophysiology.The Journal of clinical investigation · 2026
    Review
  2. 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

15 authors.

Sandrine CestèleUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0000-0002-5982-1562
Alexander James HarperSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0000-0001-7532-4219
Sebastian MarraUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0009-0004-8325-2074
Nathalie LeroudierUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0009-0007-1923-9037
Raffaella RusconiUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0000-0002-8448-1037
Sandra DhifallahUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0009-0001-2356-7400
Iain A HorrocksSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0009-0005-0994-0634
Fenella Jane KirkhamClinical and Experimental Sciences, University of Southampton, United Kingdom.ORCID https://orcid.org/0000-0002-2443-7958
Iona Margaret Rose MorganSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0009-0003-7483-1157
Jaspal SinghDepartment of Paediatric Neurology, University Hospitals Southampton NHS Trust, United Kingdom; and.ORCID https://orcid.org/0000-0001-8690-2192
Daniel John StoboWest of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom.ORCID https://orcid.org/0009-0006-8858-2659
Joseph D SymondsSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0000-0002-2141-4216
Sameer M ZuberiSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0000-0002-4489-4697
Massimo MantegazzaUniversité Cote d'Azur, Valbonne, France.ORCID https://orcid.org/0000-0002-1070-7929
Andreas BrunklausSchool of Health and Wellbeing, University of Glasgow, United Kingdom.ORCID https://orcid.org/0000-0002-7728-6903

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Elicited Repetitive Daily Blindness (ERDB) is a debilitating condition resulting in recurrent, daily episodes of reversible visual loss. ERDB has been described in individuals with Familial Hemiplegic Migraine 3 (FHM3), caused by pathogenic Methods: Data were collated through clinical interview and review of medical records for the probands of 4 new families with FHM3 and ERDB. Genetic analysis was performed for probands and, where possible, their parents. Whole-cell patch-clamp experiments were performed to measure sodium currents. Measurements were taken from transfected temperature sensitive SV40 Large T-antigen (tsA-201) cells and cortical GABAergic neurons in primary culture expressing the human Na Results: Four new pedigrees are described with typical FHM3 and ERDB (families 3-6). Blindness attacks commenced from infancy to 9 years of age. Episodes occurred 3-10 times per day, lasting up to 30 seconds. Genetic testing revealed novel heterozygous variants in the Discussion: Our study demonstrates that ERDB is a clinical feature in FHM3 patients because of gain-of-function Na

Identifiers

PMID42040244
PMCPMC13105197

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Registered trials

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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.