Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone

“…Effective treatments are a key goal as patients with the R209H mutation experience repeated hospitalizations (Ananth et al, 2016;Marecos et al, 2018;Schirinzi et al, 2018). Deep brain stimulation in the internal globus pallidus has proven effective in GNAO1 patients in attenuating MD (Kulkarni et al, 2016;Sanem et al, 2016;Honey et al, 2018;Koy et al, 2018). However, that invasive treatment is reserved for refractory patients.…”

“…It was recognized in 2016 that some GNAO1 mutations result in movement disorders without epilepsy (Kulkarni et al, 2016;Saitsu et al, 2016). To date there are over 70 published cases of children with mutations in GNAO1 presenting with early infantile epileptic encephalopathy (EIEE17: OMIM 615473) and/or neurodevelopmental disorder with involuntary movements (NEDIM: OMIM 617493) (Nakamura et al, 2013;Consortium et al, 2014;Law et al, 2015;Talvik et al, 2015;Ananth et al, 2016;Consortium, 2016;Dhamija et al, 2016;Gawlinski et al, 2016;Kulkarni et al, 2016;Marcé-Grau et al, 2016;Menke et al, 2016;Saitsu et al, 2016;Sanem et al, 2016;Arya et al, 2017;Danti et al, 2017;Sakamoto et al, 2017;Schorling et al, 2017;Blumkin et al, 2018;Bruun, 2018;Gerald et al, 2018;Honey et al, 2018;Koy et al, 2018;Marecos et al, 2018;Okumura et al, 2018;Rim et al, 2018;Schirinzi et al, 2018;Takezawa et al, 2018;Waak et al, 2018;Xiong et al, 2018;Meredith et al, 2019). This article has not been copyedited and formatted.…”

Treatment of Chorea in Childhood

“…DBS treatment has been reported in dyskinetic cerebral palsy, ADCY-5-related dyskinesia, and GNAO1-related severe choreoathetosis, with variable outcomes. 71,72,[107][108][109] Uncertainty of case selection criteria, optimal age at procedure for the best benefit, and outcome-predicting factors require additional research. 73,110 Specific paroxysmal dyskinesias Some of the paroxysmal dyskinesias have been shown to respond to specific medications; this is true for the most common forms of PKD, PNKD, and PED.…”

Whole‐genome analysis identifying candidate genes of altitude adaptive ecological thresholds in yak populations

“…There is no evidence that the remaining two genes are directly related to high‐altitude adaptation or environmental adaptation. For example, the GNAO1 gene is well known as a factor affecting mobility and brain development (Feng, Khalil, Neubig, & Sidiropoulos, ; Koy et al, ), and RPS6KA6 is widely associated with tumorigenesis and cancer. (Jiang et al, ; Rafiee et al, ).…”