Table 3. The positive treatment for GNAO1 related MD.
Ref (PMID/DOI) | Positive treatment | GNAO1 variant | Sex | Inheritance | Age of onset | Seizures | MD |
---|---|---|---|---|---|---|---|
28357411 | Tetrabenazine | p.Glu246Gly | Female | De novo | 6 months | + | + |
28357411 | Tetrabenazine | p.Ser47Gly | Male | De novo | 5 months | + | + |
30838255 | Tetrabenazine | p.Arg209His | Male | De novo | 10 months | + | |
29758257 | Tetrabenazine | p.Glu237Lys | Male | De novo | 4 months | + | |
28668776 | Tetrabenazine | p.Glu237Lys | Male | De novo | 3 months | + | |
27068059 | Tetrabenazine | p.Glu246Lys | Female | De novo | 4 years | + | |
27068059 | Tetrabenazine | p.Glu246Lys | Female | De novo | 6 months | + | |
27068059 | Tetrabenazine | p.Glu246Lys | Male | De novo | 14 years | + | |
28668776 | Tetrabenazine | p.Glu246Lys | Female | De novo | 3 months | + | |
DOI: 10.1055/s-0036-1597627 | Levetiracetam | p.Gly45Arg | Male | De novo | unknown | + | + |
29758257 | Levetiracetam | p.Glu237Lys | Male | De novo | 4 months | + | |
25966631/27916449 | Topiramate | p.Arg209Cys | Female | De novo | 11 months | + | |
30838255 | Trihexyphenidyl | p.Arg209His | Male | De novo | 10 months | + | |
33358199 | Gabapentin | p.Arg209Cys | Female | De novo | 2 years | + | |
Our study | oxcarbazepine | p.Glu237Lys | Male | De novo | 4 years | + | |
32044685 | DBS + levodopa | p.Ser207Phe | Female | De novo | 16 years | + | |
31076915 | DBS | p.Glu246Lys | Female | Unknown | 13 months | + | |
31076915 | DBS | p.Glu246Lys | Female | Unknown | 4 years | + | + |
30103967 | DBS | c.723+1G>T | Female | De novo | 3 years | + | |
30103967 | DBS | p.Arg209Cys | Female | De novo | 0 month | + | + |
30103967 | DBS | p.Glu237Lys | Male | De novo | 0 month | + | |
29661126 | DBS | p.Arg209Leu | Male | De novo | 18 months | ||
28357411 | DBS | p.Glu246Gly | Female | De novo | 6 months | + | + |
28668776 | DBS | p.Glu237Lys | Male | De novo | 3 months | + | |
28668776 | DBS | p.Glu246Lys | Female | De novo | 3 months | + | |
26060304 | DBS | p.Arg209His | Male | De novo | 18 months | + | |
26060304 | DBS | p.Arg209His | Male | De novo | 2 years | + | |
28668776 | DBS | p.Arg209Cys | Female | De novo | 6 months | + | + |
29661126 | DBS | p.Arg209Leu | Male | De novo | 2 years | + | |
27278281 | DBS | p.Gln233Phe | Female | De novo | 13 months | + |
MD, movement disorder; DBS, deep brain stimulation. ‘+’, positive.