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  • Title: Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
    Author: Bernardo P, Budetta M, Aliberti F, Carpentieri ML, De Brasi D, Sorrentino L, Russo C, D'amico A, Cinalli G, Santoro C, Coppola A.
    Journal: Neurol Sci; 2021 May; 42(5):2063-2067. PubMed ID: 33389251.
    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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