Samarut et al., 2018
- γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment.
Epilepsia
59(11):2061-2074
Full text @ Epilepsia
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | cacna2d2a | calcium channel, voltage-dependent, alpha 2/delta subunit 2a |
| Gene | elavl3 | ELAV like neuron-specific RNA binding protein 3 |
| Gene | gabbr1b | gamma-aminobutyric acid (GABA) B receptor, 1b |
| Gene | gabbr2 | gamma-aminobutyric acid (GABA) B receptor, 2 |
| Gene | gabra1 | gamma-aminobutyric acid type A receptor subunit alpha1 |
| Gene | gabrg2 | gamma-aminobutyric acid type A receptor subunit gamma2 |
| Gene | hdc | histidine decarboxylase |
| Gene | hnrnpa0a | heterogeneous nuclear ribonucleoprotein A0a |
| Gene | kcnk5a | potassium channel, subfamily K, member 5a |
| Gene | kif5bb | kinesin family member 5B, b |
| Gene | klc1a | kinesin light chain 1a |
| Gene | mt-cyb | cytochrome b, mitochondrial |
| Gene | nlgn2b | neuroligin 2b |
| Gene | nlgn4xb | neuroligin 4 X-linked b |
| Gene | nxph2a | neurexophilin 2a |
| Gene | pho | phoenix |
| Gene | rnf121 | ring finger protein 121 |
| Gene | rplp2 | ribosomal protein, large P2 |
| Gene | sema6ca | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Ca |
| lincRNA Gene | si:ch1073-425j19.2 | si:ch1073-425j19.2 |
| Gene | slc12a5b | solute carrier family 12 member 5b |
| Gene | slc6a11b | solute carrier family 6 member 11b |