| ASD | Autism spectrum disorders |
| BBB | Blood-brain barrier |
| CDG2M | Congenital disorder of glycosylation type IIm |
| cfDNA | Cell-free desoxyribonucleic acid |
| CNS | Central nervous system |
| CNV | Copy Number Variants |
| CSF | Cerebrospinal fluid |
| ddPCR | Droplet digital polymerase chain reaction |
| EE | Epileptic encephalopathies |
| FCD | Focal cortical dysplasia |
| FCDII | Focal cortical dysplasia type II |
| gDNA | Genomic desoxyribonucleic acid |
| HME | hemimegalencephaly |
| ID | Intellectual disability |
| IGE | Idiopathic generalized epilepsy |
| KD | Ketogenic diet |
| LOH | Loss-of-heterozygosity |
| MCD | Malformations of cortical development |
| MOGHE | Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy |
| NGS | Next-generation sequencing |
| RE | Refractory epilepsy |
| Shh | Sonic hedgehog |
| SNV | Single Nucleotide Variants |
| SWS | Sturge-Weber syndrome |
| TLE | Temporal lobe epilepsy |
| XTLE | Extra temporal lobe epilepsy |