MAP2K1

Gene product: Mitogen-Activated Protein Kinase Kinase 1.

Protein function: A dual-specific protein kinase that is a key component of the RAS-MAPK signaling pathway (Figure 1) and plays an important role in cell proliferation, differentiation, survival, migration and metabolism[1-2]. Other literature reports MAP2K1 mutations also lead to overactivation of the mTOR signaling pathway and may be related to focal cortical dysplasia [7].

Phenotype: Cardiofaciocutaneous syndrome 3 (AD) (some may have developmental delay and seizures, and some may present with Infantile Epileptic Spasms Syndrome) [3-6].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 37827855 (Am J Med Genet A. 2024))

Medication reminder: The choice of medication is mainly based on different Epilepsy Syndromes. Some of them may present as refractory epileptic seizures. Literature reports that some children have a good response to oxcarbazepine [5]. There is no relevant literature report on whether other relatively targeted treatments such as MEK inhibitors and mTOR inhibitors have a certain effect on epileptic seizures caused by this gene mutation. In addition, if imaging clearly indicates focal cortical dysplasia and the EEG also indicates it, surgery may also be an option for drug-resistant epilepsy caused by this gene mutation (there is no relevant literature report yet, personal opinion, for reference only).

Figure 1

References: