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Description
Less than one in 100,000 people experience Neurite Extension and Migration Factor (NEXMIF) Encephalopathy, which is an X-linked condition that was discovered in 2004 and only became known between 2013-2016 clinically. Mutations in NEXMIF have a particular impact on dendrites and axon length that affects early brain development among other things. Its phenotype is seen to include primarily intellectual disabilities and drug-resistant epilepsy (DRE). Typically, males experience intellectual disability whereas females typically experience both with a less severe intellectual disability in comparison to males. A novel epilepsy surgery treatment for DRE is Responsive Neurostimulation (RNS, NeuroPace, Mountain View, California) which is a closed-loop cranial implant that can detect, learn, and abort individual epileptiform activity.
Publication Date
5-9-2025
Disciplines
Neurology
Recommended Citation
Purosky I, Haver J, Bercu MM. Case study: responsive neurostimulation treatment for a case of X-linked NEXMIF encephalopathy in a female patient. Presented at: Research Day Corewell Health West; 2025 May 9; Grand Rapids, MI.
Comments
2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1785