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Anti‐seizure effect of MEK inhibitor in a child with neurofibromatosis type 1 ‐ developmental and epileptic encephalopathy and optic pathway glioma

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By Cécile Faure-Conter, Pierre Leblond, Michael Philippe, Sarah Barrière
| pericles.pericles-prod.literatumonline.com
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the central nervous system (CNS) and are particularly at risk for optic pathway gliomas (OPG). Epilepsy is another recognized neurologic complication in patients with NF1, with a prevalence estimated between 4–14%.
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