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 CASE REPORT
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)


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_207_20

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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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