However, it is not known whether a SLC17A5 haploinsuficiency, expressing, and aberrant protein might behave in a manner similar to its mutants regarding symptoms such as dystonia, hypotonia, or seizure crisis and share some symptoms such as hypotonia, ataxia, epilepsy, nystagmus, and findings of cerebral and cerebellar atrophy detected in patients with Salla disease [33]. This evidence concerns the gene SLC17A5 and Salla disease.