Evidence map›Paper›PMID 39576357›Full record

ArticleNeurogenetics2024

DHDDS-related epilepsy with hippocampal atrophy: a case report.

Álvaro de Oliveira Franco, Matheus Bernardon Morillos, Martim Tobias Bravo Leite, Marino Muxfeldt Bianchin, Carolina Machado Torres

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In one paragraph

Article in Neurogenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Álvaro de Oliveira FrancoService of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil. alvaro.doliveirafranco@gmail.com.ORCID http://orcid.org/0000-0003-0601-6348
Matheus Bernardon MorillosService of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil.ORCID https://orcid.org/0000-0002-1091-1495
Martim Tobias Bravo LeiteService of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil.ORCID http://orcid.org/0000-0002-0824-9308
Marino Muxfeldt BianchinService of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil.ORCID https://orcid.org/0000-0001-8345-6713
Carolina Machado TorresService of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil.ORCID https://orcid.org/0000-0003-0562-9513

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.

Indexed as

AtrophyHippocampusDevelopmental DisabilitiesEpilepsyHumansMiddle AgedMutationPhenotypeDEDSMDevelopmental and epileptic encephalopathyDHDDSDolichol-dependent glycosylationEpilepsy geneticsHippocampal atrophy

Identifiers

PMID39576357

What OpenQuestion holds

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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.