Skip to main content
. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621
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