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 |