未经证实:GNAO1相关的神经发育障碍是一种异质性疾病,其特征是张力减退,发育迟缓,癫痫,和运动障碍。这项研究旨在更好地了解与GNAO1变异相关的癫痫谱和抗癫痫药物的经验,并回顾已发表的GNAO1癫痫表型。
UNASSIGNED:向被诊断患有GNAO1致病变种的个体的照顾者分发了一项在线调查,并进行了文献综述。
UNASIGNED:15名受访者完成了调查,中位年龄为39个月,包括一个新的变种p.Q52P.九人患有癫痫-六人在生命的第一周发病,三个人在生命的第一年-但两个报告没有持续的癫痫发作。癫痫发作类型多种多样。个体在没有单一最佳治疗的情况下服用3种癫痫发作药物的中位数。我们的队列与GNAO1中癫痫的文献综述进行了比较。在86个案例中,描述了38个离散变异;53%的病例报告了癫痫,36%的人患有发育性和癫痫性脑病。
未经授权:虽然与GNAO1相关的癫痫通常是早发性和严重的,癫痫发作可能并不总是耐药或终生。抗癫痫药物的经验是多种多样的。某些变异“热点”可能与癫痫表型相关,尽管对基因型-表型相关性了解甚少。
UNASSIGNED: GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1.
UNASSIGNED: An online survey was distributed to caregivers of individuals diagnosed with GNAO1 pathogenic variants, and a literature review was conducted.
UNASSIGNED: Fifteen respondents completed the survey with the median age of 39 months, including a novel variant p.Q52P. Nine had epilepsy - six had onset in the first week of life, three in the first year of life - but two reported no ongoing seizures. Seizure types varied. Individuals were taking a median of 3 seizure medications without a single best treatment. Our cohort was compared to a literature review of epilepsy in GNAO1. In 86 cases, 38 discrete variants were described; epilepsy is reported in 53 % cases, and a developmental and epileptic encephalopathy in 36 %.
UNASSIGNED: While GNAO1-related epilepsy is most often early-onset and severe, seizures may not always be drug resistant or lifelong. Experience with anti-seizure medications is varied. Certain variant \"hotspots\" may correlate with epilepsy phenotype though genotype-phenotype correlation is poorly understood.