GNAO1 mutation-related severe involuntary movements treated with gabapentin

Akasaka, Manami; Kamei, Atsushi; Tanifuji, Sachiko; Asami, Maya; Ito, Jun; Mizuma, Kanako; Oyama, Kotaro; Tokutomi, Tomoharu; Yamamoto, Kayono; Fukushima, Akimune; Tamura, Toshiki; Uehara, Tomoko; Suzuki, Hisato; Kosaki, Kenjiro

doi:10.1016/j.braindev.2020.12.002

Cited by 8 publications

(10 citation statements)

References 18 publications

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“…They were treated with phenobarbital, benzodiazepines (clonazepam and diazepam), levodopa, neuroleptics (haloperidol and risperidone), and antiepileptics (topiramate, carbamazepine, valproate) (2,11,(14)(15)(16). In one case of severe MD with the GNAO1 variant, the episodes were treated successfully with gabapentin (17). However, few patients presenting with severely medical-refractory MD required surgical treatment.…”

Section: Discussionmentioning

confidence: 99%

Phenotypes of GNAO1 Variants in a Chinese Cohort

et al. 2021

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This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six were novel. All the variants were confirmed to be de novo in peripheral blood DNA. Eight (73%, 8/11) patients had epilepsy; the seizure onset age ranged from 6 h after birth to 4 months (median age, 2.5 months). Focal seizures were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), tonic seizures in two, atypical absence in one, and generalized tonic–clonic seizures in one. Seven patients had multiple seizure types. Eight (73%, 8/11) patients had movement disorders, seven of them having only dystonia, and one having dystonia with choreoathetosis. Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile epileptic encephalopathy (EIEE) in two (18%) patients, which were further diagnosed as West syndrome. Movement disorders (MD) with developmental delay were diagnosed in two (18%) brothers. EIEE and MD were overlapped in six (55%) patients, among which two were diagnosed with West syndrome, one with Ohtahara syndrome, and the other three with non-specific EIEE. One (9%) patient was diagnosed as DD alone. The onset age of GNAO1-related disorders was early infancy. The phenotypic spectrum of GNAO1 included EIEE, MD with DD, and DD alone.

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Section: Discussionmentioning

confidence: 99%

Phenotypes of GNAO1 Variants in a Chinese Cohort

et al. 2021

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“…The search yielded 86 cases including 38 variants across 15 publications from 2013 to 2021 (Supplementary Table) [1] , [2] , [3] , [4] , [5] , [6] , [8] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] . Table 2 summarizes the clinical characteristics.…”

Section: Resultsmentioning

confidence: 99%

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey

Yang

Porter

Axeen

2023

Epilepsy & Behavior Reports

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“…While viral infection, including SARS-CoV infection, is an important trigger of rhabdomyolysis, 9,10 an underlying genetic predisposition, such as the GNAO1 mutation of our patient, may also exacerbate the condition. 11,12 In addition to conventional therapy like volume therapy, alkaline diuresis, and dialysis, the use of hemoadsorption for myoglobin removal has been increasingly explored in recent years. Cystosorb® can eliminate hydrophobic molecules up to the size of 55 kDa, which makes myoglobin with a molecular weight of 17 kDa removable by the device.…”

Section: Discussionmentioning

confidence: 99%

The Sequential Use of Extracorporeal Cytokine Removal Devices in an Adolescent With COVID-19 Receiving Continuous Renal Replacement Therapy

Hui¹,

Chan

Wong

et al. 2022

ASAIO Journal

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A 14-year-old male developed multisystem inflammatory syndrome in children (MIS-C) after acquiring the SARS-CoV-2 infection. He deteriorated rapidly requiring inotropic and ventilatory support as well as continuous renal replacement therapy (CRRT) due to rhabdomyolysis-associated acute kidney injury. A hemoadsoprtion column Cytosorb® was first incorporated into the CRRT circuit for myoglobin and cytokines removal, which was followed by sequential use of another type of cytokine-removing hemofilter (Oxiris®) (altogether 100 hours of extracorporeal blood purification [EBP] therapy). There was no major complication related to the EBP therapy. Cytokine profile revealed a marked reduction of levels of several cytokines including tumor necrosis factor-α, interleukin (IL)-6, IL-8, and IL-10 after the EBP therapy. It was noted that both pro-inflammatory and anti-inflammatory cytokines were removed, and the removal efficacy varied between different devices. His condition improved and the serum ferritin, C-reactive protein, and procalcitonin levels also dropped gradually, which correlated well with his clinical progress and the trend of cytokine levels. Our case demonstrated that extracorporeal cytokine removal can be safely applied in children with MIS-C and can be considered as adjunctive therapy in selected patients with critically ill conditions.

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GNAO1 mutation-related severe involuntary movements treated with gabapentin

Cited by 8 publications

References 18 publications

Phenotypes of GNAO1 Variants in a Chinese Cohort

Phenotypes of GNAO1 Variants in a Chinese Cohort

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey

The Sequential Use of Extracorporeal Cytokine Removal Devices in an Adolescent With COVID-19 Receiving Continuous Renal Replacement Therapy

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