SLC13A5 and epilepsy: To date, more than 40 known SLC13A5 variants that lead to epilepsy (including nonsense and missense variants, frame shift variants from single nucleotide polymorphisms, exon deletions, and whole gene deletions) are bi-allelic, with c.655G>A (p.G219R) and c.680C>T (p.T227M) being the most common [10,11].