Abstract
Temporal lobe abnormalities and focal epilepsy have been documented in FGFR3-related clinical condition, including hypochondroplasia and Muenke syndrome. FGFR3 is expressed in the brain during development and could play a role in nervous system development and hippocampal formation. These observations suggest a non-casual association between temporal malformation, epilepsy, and FGFR3 mutations. Herein, we report clinical, electroclinical, and neuroimaging findings of three additional cases of focal epilepsy and temporal lobe malformations occurring in children with FGFR3 gene mutations.
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The investigators are very grateful to the families who have participated in and contributed to this study.
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Figure S1
ictal EEG showing the focus onset: an ictal recording discloses the seizure onset characterized by a rhythmic sharp waves activity over the right medial temporal regions and spreading on the left temporal regions”. (TIFF 6.95 MB) (PNG 52.7 MB)
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Bernardo, P., Budetta, M., Aliberti, F. et al. Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?. Neurol Sci 42, 2063–2067 (2021). https://doi.org/10.1007/s10072-020-04923-3
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DOI: https://doi.org/10.1007/s10072-020-04923-3