Table 3 The clinical and genetic features of the previously reported cases with FARS2 mutations affected by juvenile-onset epilepsy
References | Subject | Ethnicity | Consanguinity | Gender | Seizures and age of onset | Brain MRI | Other clinical phenotypes | Death of age | FARS2 variants |
|---|---|---|---|---|---|---|---|---|---|
Walker et al. [17] | 1 | NA | No | F | A prolonged generalized tonic–clonic convulsion, 8 years | Extensive areas of abnormal T2 hyperintensity in the frontal lobes (right greater than left), anterior cingulate gyri, left superior frontal gyrus, bilateral temporal lobes, and left cerebellar cortex | Motor and speech delays | 15 years | p.P85A/p.H135D (het) |
Hotait et al. [11] | 2 | NA | No | F | Brief focal aware clonic seizures semiologically characterized by twitching of the left side of the face, 16 years | Restricted diffusion in the cortical-subcortical areas of the right frontal lobe, right insula, right thalamus and to lesser extent in the right temporal, both parietal lobes and left frontal lobe | Paresis of left upper extremity | Alive at 17 years of age | p.V197M/exon 2 microdeletion (het) |
Chen et al. [9] | 3 | NA | No | M | Generalized tonic–clonic convulsions, 12 years | Increased wandering lesions involving bilateral frontal, temporal, and parietal lobes, occipital cortex and subcortical | Increased serum lactic acid, pes cavus, mild muscular atrophy and compensatory hypertrophy | 20 years | p.V197M/p.F402S (het) |