Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, Andrew Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind Jefferson, Karine Lascelles, John Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan SpintyManju A. Kurian, Rachel Kneen*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    108 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)1578-1591
    Number of pages14
    Issue number5
    Publication statusPublished - May 2013


    • early infantile epileptic encephalopathy
    • migrating partial seizures in infancy
    • epilepsy of infancy with migrating focal seizures
    • malignant migrating partial epilepsy of infancy
    • infantile seizures
    • SLC25A22


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