Table 1.
Drug responses in patients with loss- and gain-of-function GABRB3 variants.
| Seizure freea | Seizure reduction | No effect | Worsening/adverse effects | |
|---|---|---|---|---|
| Loss-of-function GABRB3 patients | ||||
| Sodium Channel Inhibitorsb | 12% (2/17) | 5.9% (1/17) | 59% (10/17) | 24% (4/17) |
| GABAergic Enhancersc | 42% (8/19) | 5.3% (1/19) | 47% (9/19) | 5.3% (1/19) |
| Carbonic Anhydrase Inhibitorsd | 29% (2/7) | 29% (2/7) | 43% (3/7) | 0% (0/7) |
| Valproate | 44% (8/18) | 22% (4/18) | 28% (5/18) | 5.6% (1/18) |
| Levetiracetam | 30% (3/10) | 10% (1/10) | 60% (6/10) | 0% (0/10) |
| Steroids/Ketogenic Diet | 50% (2/4) | 0% (0/4) | 50% (2/4) | 0% (0/4) |
| Overall | 33% (25/75) | 12% (9/75) | 47% (35/75) | 8% (6/75) |
| Gain-of-function GABRB3 patients | ||||
| Sodium Channel Inhibitorsb | 17% (1/6) | 0% (0/6) | 83% (5/6) | 0% (0/6) |
| GABAergic Enhancersc | 0% (0/12) | 17% (2/12) | 58% (7/12) | 25% (3/12) |
| Carbonic Anhydrase Inhibitorsd | 20% (1/5) | 20% (1/5) | 40% (2/5) | 20% (1/5) |
| Valproate | 0% (0/6) | 0% (0/6) | 83% (5/6) | 17% (1/6) |
| Levetiracetam | 0% (0/9) | 11% (1/9) | 78% (7/9) | 11% (1/9) |
| Steroids/Ketogenic Diet | 20% (1/5) | 0% (0/5) | 80% (4/5) | 0% (1/5) |
| Overall | 7.0% (3/43) | 9.3% (4/43) | 70% (30/43) | 14% (6/43) |
aIncludes when used either in monotherapy or polytherapy.
bIncludes carbamazepine, oxcarbazepine, phenytoin, lacosamide and lamotrigine.
cIncludes clobazam, clonazepam, nitrazepam, phenobarbital, stiripentol and vigabatrin.
dIncludes sultiame and topiramate.