Table 1 The pathogenic genes, inheritance, seizure types, EEG, and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy
Syndrome | Pathogenic gene | Inheritance | Types of seizures | EEG | Treatment |
|---|---|---|---|---|---|
Adenosine succinate lyase deficiency | ADSL | AR | Myoclonic seizures, focal seizures, GTCS, status epilepticus, infantile spasms, etc | Extensive spikes and waves, burst-suppression manifestations, etc | D-ribose, uridine, ASM, ketogenic diet |
Lesch-Nyhan syndrome | HPRT | XLR | Â | Nonspecific slowing or disorder | SAMe, risperidone, baclofen, benzodiazepines, gabapentin |
ATIC deficiency | ATIC | AR | Epileptic spasms, generalized tonic seizures, focal seizures with disturbance of consciousness, etc | Â | ASM |
Adenosine monophosphate deaminase deficiency | AMPD2 | AR |  | θ and δ slowing, β activity and diffuse rhythm slowing | Supplementing the precursors of the purine de novo synthesis pathway |
Double-stranded RNA-specific adenosine deaminase 2 deficiency | ADARB1 | AR | GTCS, myoclonic seizures, West syndrome manifested infantile spasms, focal seizures, and status epilepticus | Slow background rhythm and bilateral multifocal epileptic discharges | ASM (VPA, LEV, PB, PER) |
Inosine triphosphate pyrophosphohydrolase deficiency | ITPA | AR | Febrile seizures, myoclonic seizures, tonic seizures, and generalized tonic–clonic seizures | Focal, multifocal, or diffuse epileptiform discharges with slow, chaotic background rhythms | ASM, ketogenic diet |
Dihydropyrimidine dehydrogenase deficiency | DPYD | AR | Â | Sharp waves in the temporo-occipital region and generalized slowing of background activity | ASM (VPA, OXC, PB) |
Dihydropyrimidinase deficiency | DPYS | AR | Infantile spasms | Â | ASM |
β-ureidopropionase deficiency | UPB1 | AR | GTCS, febrile seizures, etc | Hypsarrhythmia | ASM (VPA, ZNS), β-alanine, β-aminosiobutyrate supplements, and βUP supplementation |