Wilson Michelle, Wong Francis
Cardinal Health Regulatory Sciences, Hamilton, Ohio, USA.
UC Berkeley, Berkeley, California, USA.
J Child Adolesc Psychopharmacol. 2025 Aug;35(6):353-358. doi: 10.1089/cap.2024.0100. Epub 2025 Apr 22.
variants are thought to affect the scaffolding that protects the axonal segment of neurons as well as neuronal synapses. The gene is located in the 9q34.11 genomic region and encodes the cytoskeletal protein alpha II spectrin. Epilepsy, encephalopathy, and motor neuropathy are most commonly associated with variants. An informed consent and questionnaire were developed in order to gather information from caregivers regarding their family members' variant. Survey results are summarized descriptively, in order of frequency. The results of a questionnaire filled out by the caregivers of loved ones who have a mutation are summarized for 25 individuals, 14 males and 11 females, who have the mutation. The results of this survey mirror those reported by other authors and include epilepsy, intellectual and motor delays, encephalopathy, and motor neuropathy. Additional effects of the mutation reported here include absent or difficult speech, happy personality, decline in cognitive and motor skills with age, vision and hearing abnormalities, organ and skeletal effects, autoimmune diseases, and weakened immune systems.
变异体被认为会影响保护神经元轴突段以及神经元突触的支架结构。该基因位于9q34.11基因组区域，编码细胞骨架蛋白α II血影蛋白。癫痫、脑病和运动神经病最常与该变异体相关。为了从照顾者那里收集有关其家庭成员该变异体的信息，制定了知情同意书和调查问卷。调查结果按频率顺序进行描述性总结。对25名携带该突变的个体（14名男性和11名女性）进行了总结，这些个体是由其亲人的照顾者填写的调查问卷结果。本次调查结果与其他作者报告的结果一致，包括癫痫、智力和运动发育迟缓、脑病和运动神经病。此处报告的该突变的其他影响包括言语缺失或困难、性格开朗、认知和运动技能随年龄下降、视力和听力异常、器官和骨骼影响、自身免疫性疾病以及免疫系统减弱。
