颞叶畸形、局灶性癫痫和 FGFR3 突变：非因果关联？
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
机构信息
Department of Neurosciences and Neurosurgery, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Department of Translational Medical Science, Pediatric Section, University of Naples Federico II, Naples, Italy.
出版信息
Neurol Sci. 2021 May;42(5):2063-2067. doi: 10.1007/s10072-020-04923-3. Epub 2021 Jan 3.
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.
已有研究表明，成纤维细胞生长因子受体 3（FGFR3）相关的临床病症，包括软骨发育不全症和穆恩克综合征等，会导致颞叶异常和局灶性癫痫。FGFR3 在大脑发育过程中表达，并可能在神经系统发育和海马形成中发挥作用。这些观察结果表明，颞叶畸形、癫痫和 FGFR3 突变之间存在非偶然的关联。在此，我们报告了 3 例 FGFR3 基因突变患儿局灶性癫痫和颞叶畸形的临床、电临床和神经影像学表现。
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