FARS2 Mutations: Clinical Case Study of a Third Phenotype

A single clinical case report describes a third distinct phenotype linked to mutations in the FARS2 gene. The report details a 17-year-old woman with juvenile-onset refractory epilepsy, a super refractory focal motor status epilepticus, and specific mitochondrial abnormalities. Authored by Mostafa Hotait of the American University of Beirut Medical Center, this data is shared via an open-access paper on Papers with Code.

Use Cases

• Identifying novel genotype-phenotype associations based on the described FARS2 mutation (p.V197M and exon 2 microdeletion)
• Studying mitochondrial compensatory mechanisms based on the reported biochemical activities showing enhanced complexes II and IV
• Characterizing clinical progression of refractory epilepsy based on the detailed patient history, including surgical intervention and subsequent seizure recurrence

Strengths

• Provides a detailed, peer-reviewed clinical case report of a novel disease manifestation
• Includes specific genetic (p.V197M mutation, exon 2 microdeletion) and biochemical (mitochondrial proliferation, enhanced complex activities) findings

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• Data may reflect a single-case bias inherent to individual case reports on Papers with Code

Provenance

Source

American University of Beirut Medical Center

Collection Method

Clinical case study and genetic analysis.