包含核因子1A基因的1p31.3缺失可能表现为与分裂情感性障碍相关的颞叶癫痫。

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2022-08-01 Epub Date: 2022-10-09 DOI:10.1080/13554794.2022.2132869

Mark A Colijn, Monica Hrynchak, Chantelle T Hrazdil, Veerle Willaeys, Randall F White, Robert M Stowe

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引用次数: 1

摘要

染色体1p32-p31缺失综合征以多种神经发育异常为特征，被认为是核因子1A (NFIA)单倍不全的结果。我们报告了一位右撇子的40岁女性，患有1p31.3缺失，她表现出该综合征的许多共同特征，除了治疗难耐的分裂情感性障碍和可能的颞叶癫痫，使她的表现独特。虽然在此综合征中既没有精神病也没有颞叶癫痫的描述，但这些情况可能是由于NFIA单倍功能不全导致的。

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A 1p31.3 deletion encompassing the nuclear factor 1A gene presenting as possible temporal lobe epilepsy in association with schizoaffective disorder.

Chromosome 1p32-p31 deletion syndrome, which is characterized by a variety of neurodevelopmental abnormalities, is thought to occur as a result of nuclear factor 1A (NFIA) haploinsufficiency. We present a case of a right-handed 40-year-old female with a 1p31.3 deletion, who exhibited numerous common features of this syndrome, in addition to treatment resistant schizoaffective disorder and possible temporal lobe epilepsy, making her presentation unique. While neither psychosis nor temporal lobe epilepsy has been described in this syndrome previously, these conditions likely occurred in our patient as a result of NFIA haploinsufficiency.

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.