Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
Open accessAbstract
Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. A national surveillance study was undertaken in conjunction with the British Paediatric Neurology Surveillance Unit to further define the clinical, pathological and molecular genetic features of this disorder. Fourteen children with migrating partial seizures of infancy were reported during the 2 year study period (estimated prevalence 0.11 per 100,000 children). The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated with infantile spasms) and burst suppression. We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort, and decreased N-acetyl aspartate on magnetic resonance spectroscopy. Putaminal atrophy (on both magnetic resonance imaging and at post-mortem) was evident in one patient. Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. Comparative genomic hybridization array, SCN1A testing and genetic testing for other currently known early infantile epileptic encephalopathy genes (including PLCB1 and SLC25A22) was non-informative for the rest of the cohort.
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SCN2A was the second most commonly mutated gene for EIMFS in our cohort, after KCNT1.
“Seven patients with SCN2A mutations had EIMFS, constituting 26% (7/27) of our total cohort of patients with EIMFS and rendering SCN2A the second most commonly mutated gene for EIMFS, after KCNT1.25,26”
From <i>SCN2A</i> encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (2015) · cites this paper as [26]
The Discussion (page unavailable) calls KCNT1 a likely major gene for migrating partial seizures of infancy, and Other investigations reports KCNT1 mutations in two patients. The paper does not establish that SCN2A was the second most commonly mutated gene or report the citing authors’ seven SCN2A cases among 27 patients. (LLM, conf=0.86)
Experimental — accuracy not yet measuredWhile Dravet syndrome is differentiated by age at onset and seizure types, rare cases of EIMFS due to SCN1A mutations are described.
“While Dravet syndrome is differentiated by age at onset and seizure types, rare cases of EIMFS due to SCN1A mutations are described.26,36,38”
From <i>SCN2A</i> encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (2015) · cites this paper as [26]
The Discussion reports three MPSI (EIMFS) cases with SCN1A abnormalities among 22 tested, supporting the claim that rare cases have been described. Our copy does not discuss how Dravet syndrome is differentiated by age at onset or seizure type, so that part is not supported by this source. Page numbers are not available in the indexed passages. (LLM, conf=0.85)
Experimental — accuracy not yet measuredSeven patients with SCN2A mutations had EIMFS, constituting 26% (7/27) of the total cohort of patients with EIMFS.
“Seven patients with SCN2A mutations had EIMFS, constituting 26% (7/27) of our total cohort of patients with EIMFS and rendering SCN2A the second most commonly mutated gene for EIMFS, after KCNT1.25,26”
From <i>SCN2A</i> encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (2015) · cites this paper as [26]
The source’s Other investigations section reports two patients with KCNT1 variants in its MPSI cohort, while the Discussion describes earlier SCN2A screening with negative findings. Neither passage addresses the citing authors’ cohort of 27 or reports seven patients with SCN2A mutations, so the 7/27 figure cannot be verified from this paper. Page numbers are unavailable in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measured
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- Authors
- McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., Farrell, M. A., Hughes, E., Jefferson, R., Lascelles, K., Livingston, J., Meyer, E., McLellan, A., Poduri, A., Scheffer, I. E., Spinty, S., Kurian, M. A., & Kneen, R.
- Affiliations
- Great Ormond Street Hospital (GB)
- Alder Hey Children's NHS Foundation Trust (GB)
- Temple Street Children's University Hospital (IE)
- Evelina London Children's Healthcare (GB)
- Royal Berkshire Hospital (GB)
- Leeds General Infirmary (GB)
- University College London (GB)
- Royal Hospital for Sick Children (GB)
- Boston Children's Hospital (US)
- The University of Melbourne (AU)
- University of Liverpool (GB)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-04-18
- Volume
- 136
- Issue
- 5
- Pages
- 1578-1591
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC3634200
- OpenAlex
- W2100971636
- Cited by
- 170
- References
- 35
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 7 · 2023: 7 · 2022: 7 · 2021: 21 · 2020: 37 · 2019: 13 · 2018: 5 · 2017: 12 · 2016: 12 · 2015: 14 · 2014: 12 · 2013: 6
- FWCI
- 10.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- Funders
- Alder Hey Children's NHS Foundation Trust
- Wellcome Trust
- Action Medical Research
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- infantile epileptic encephalopathy, focal seizures, hypsarrhythmia, infantile spasms, burst suppression, delayed myelination, white matter hyperintensities, N-acetylaspartate, gastrointestinal motility disorders, movement disorders, SCN1A, PLCB1, genetic testing, neuropathology
- MeSH terms
- Electroencephalography, Epilepsies, Partial, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Population Surveillance, Radiography, Cohort Studies, Comparative Genomic Hybridization
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