Case Study: Responsive Neurostimulation Treatment for a Case of X-linked NEXMIF Encephalopathy in a Female Patient

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Authors

Isabella Purosky, Michigan State University College of Human Medicine Medical Student
Jake Haver, Michigan State University College of Human Medicine Medical Student
Marian Michael Bercu, Corewell Health West

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