Evidence map›Paper›PMID 41523187›Full record

ArticleBrain communications2026

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Simona Pellacani, Simona Balestrini, Edoardo Fino, Carmen Barba, Mara Cavallin, Tiziana Pisano, Elena Parrini, Anna Rita Ferrari, Chiara Marzi, Laura Grisotto and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

11 authors.

Simona PellacaniNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Simona BalestriniNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID https://orcid.org/0000-0001-5639-1969
Edoardo FinoNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Carmen BarbaNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID https://orcid.org/0000-0001-5445-5842
Mara CavallinNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Tiziana PisanoNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Elena ParriniNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Anna Rita FerrariDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa 56128, Italy.
Chiara MarziDepartment of Statistics, Computer Science, Applications, University of Florence, Florence 50139, Italy.
Laura GrisottoDepartment of Environmental and Prevention Sciences, University of Ferrara, Ferrara 44122, Italy.
Renzo GuerriniNeuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID https://orcid.org/0000-0002-7272-7079

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epilepsy with myoclonic-atonic seizures, formerly myoclonic-astatic epilepsy or Doose syndrome, accounts for 1-2.2% of childhood-onset epilepsies. We investigated genetic determinants, long-term clinical outcomes and prognostic indicators in a large cohort using homogeneous inclusion criteria. We studied 60 patients (26.7% female), mean age 14.5 years (±9.1, range 3.2-41), followed between 1986 and 2024 at two paediatric neurology centres. Average follow-up was 11.7 years. Inclusion criteria were seizure onset between 6 months and 8 years, generalized 2-6 Hz spike-wave discharges and video-EEG documented myoclonic-atonic, myoclonic seizures or both. We analysed clinical, EEG, neuroimaging, neuropsychological and genetic data obtained with next-generation sequencing. We used χ² test,

Indexed as

atonicchildhood epilepsydrug resistancemyoclonicneurodevelopment

Identifiers

PMID41523187
PMCPMC12782104

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.