European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
September 23, 2026 · via Europe PMC
Seizures in SRRM2-related disorder and treatment response.
Fouz-Ruiz D, Beltrán-Corbellini Á, de Vries BBA, +13 more, Aledo-Serrano Á.
AI summary — for doctors, generated from the abstract only
In a small international case series, epilepsy caused by SRRM2 gene loss-of-function variants typically began in early childhood with atypical febrile seizures and followed a generally favorable course, with good seizure control achieved in all four treated patients.
What was studied
A retrospective international study identified 7 individuals (5 female, mean age 7.9 years) with pathogenic or likely pathogenic SRRM2 gene variants (a recently identified cause of neurodevelopmental disorder) who had experienced at least one epileptic seizure, systematically reviewing clinical, genetic, neurodevelopmental, EEG, neuroimaging, and treatment data to characterize the epilepsy phenotype and treatment response.
Key findings
- All variants were de novo in cases with available parental data; median age at seizure onset was 18 months (range 8-38 months)
- Febrile seizures, often with atypical features (focal semiology or prolonged duration), were the initial manifestation in 6 of 7 individuals; 3 later developed afebrile focal impaired-awareness seizures at a mean age of 32 months
- EEG findings were heterogeneous, with focal epileptiform activity showing posterior or occipital predominance in some participants
- 4 individuals received antiseizure medication (most commonly valproic acid or levetiracetam), achieving seizure control in all treated cases, with no drug-resistant epilepsy observed in this cohort
Clinical relevance
The findings suggest that epilepsy associated with SRRM2 loss-of-function variants typically begins in early childhood with atypical febrile seizures, occasionally evolving to focal seizures, but generally follows a favorable course with good response to standard antiseizure medications, which may provide reassuring prognostic information for families and guide treatment expectations once this rare genetic diagnosis is identified.
Who should care
Limitations
This is a very small case series (7 individuals) compiled through international collaboration and case-matching databases, which limits how confidently the described favorable seizure outcomes can be generalized to all patients with SRRM2-related epilepsy, particularly since only 4 of the 7 received antiseizure medication.
In this small international case series, SRRM2-related epilepsy typically began in early childhood with atypical febrile seizures and showed a favorable course, with all treated patients achieving good seizure control using standard antiseizure medications.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Background
Loss-of-function variants in SRRM2, encoding the spliceosomal protein SRm300 involved in pre-messenger RNA splicing, have recently been associated with a neurodevelopmental disorder. Although seizures have been reported in some affected individuals, the electroclinical phenotype of SRRM2-related epilepsy has not been characterized. This study aims to outline the epilepsy phenotype and treatment response associated with SRRM2 loss-of-function variants.
Methods
We conducted a retrospective international study of individuals with pathogenic and likely pathogenic variants in SRRM2 who had at least one epileptic seizure. Previously unpublished cases were identified through collaborations with neurologists and geneticists and through the GeneMatcher and DECIPHER databases, and additional information was obtained from previously reported individuals. Clinical, genetic, neurodevelopmental, EEG, neuroimaging, and treatment data were systematically reviewed.
Results
Seven individuals (5 females; mean age at inclusion 7.9 years) met inclusion criteria. Variants were de novo in all cases with available parental data. All individuals experienced seizures, with a median age at onset of 18 months (range: 8 months to 38 months). Febrile seizures were the initial manifestation in six individuals, frequently with atypical features such as focal semiology or prolonged duration. Three later developed afebrile focal impaired-awareness seizures at a mean age of 32 months. Electroencephalogram findings were heterogeneous, showing focal epileptiform activity with posterior or occipital predominance in some participants. Four individuals received antiseizure medication, most commonly valproic acid or levetiracetam, achieving seizure control in all treated cases.
Conclusions
Epilepsy associated with SRRM2 loss-of-function variants typically presents in early childhood, often beginning with atypical febrile seizures and occasionally evolving to focal impaired-awareness seizures. The overall course appears favourable, with good response to treatment and no drug-resistant epilepsy observed in this cohort.
DOI
10.1016/j.ejpn.2026.09.006
PMID
42785215
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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