| CASE REPORT |
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| Year : 2021 | Volume
: 16
| Issue : 4 | Page : 323-326 |
FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS)
Carlos Mario Guerrero1, Sonal Bhatia2
1 Department of Neurology, Medical University of SouthCarolina, Charleston, SC, USA
2 Department of Pediatrics, Division of Pediatric Neurology, Medical University of SouthCarolina, Charleston, SC, USA
Correspondence Address:
Dr. Sonal Bhatia
Department of Pediatrics, Division of Pediatric Neurology, Medical University of South Carolina, 125 Doughty Street, Suite 550 E, Charleston, SC 29425
USA
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_207_20
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental regression with a variety of EEG findings. However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. This case provides an insight on a novel genetic mechanism for EIMFS. We encourage early consideration of WES when EIMFS is detected to evaluate for FARS2 deficiency, especially in the setting of profound lactic acidosis.
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