| RTT | Rett Syndrome |
| MECP2 | Methyl CpG-binding protein 2 |
| CREB1 | cAMP Responsive Element Binding Protein 1 |
| mTOR | Mammalian Target of Rapamycin |
| GABA | Gamma-aminobutyric acid |
| CDKL5 | Cyclin-dependent kinase-like 5 |
| FOXG1 | Forkhead box G1 gene |
| NGS | Next generation sequencing |
| WES | Whole Exome Sequencing |
| DEE | Developmental and Epileptic Encephalopaty |
| ID | Intellectual Disability |
| EE | Epileptic Encephalopaty |
| EOEE | Early Onset Epileptic Encephalopaty |
| EIEE | Early Infantil Epileptic Encephalopaty |
| STXBP1 | Syntaxin-binding protein 1 |
| GABRB2 | Gamma-aminobutyric acid type A receptor beta2 |
| GABRG2 | Gamma-aminobutyric acid type A receptor gamma2 |
| EME | Early Myoclonic Encephalopathy |
| SNARE | Soluble NSF Attachment Protein REceptor |
| Munc18-1 | Mammalian uncoordinated-18-1 |
| CNS | Central Nervous System |
| FS | Febrile Seizures |
| CAE | Childhood Absence Epilepsy |
| GEFS + | Generalized Epilepsy with Febrile Seizures plus |
| DS | Dravet syndrome |
| TM | Transmembrane Domain |
| ER | Endoplasmic Reticulum |
| IECEE2 | Infantile or Early Childhood Epilepsy Encephalopaty type 2 |
| NTS | Nucleus of the solitary tract |