与tuba1a相关的小管病与婴儿癫痫痉挛综合征和非典型失神发作有关。

IF 2.7 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders Pub Date : 2025-07-29 DOI:10.1002/epd2.70072

Andy Cheuk-Him Ng, Morris H Scantlebury

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引用次数: 0

摘要

携带TUBA1A致病变异的患者可能出现复杂的脑畸形、智力残疾和癫痫。癫痫的表型是多种多样的，从轻微到严重，癫痫痉挛和局灶性发作是最常见的发作类型。我们报告了一个婴儿与TUBA1A变异呈现发展中的癫痫性脑病。最初，该患者表现为婴儿癫痫痉挛综合征，最终在1岁前出现非典型失神性癫痫发作。我们讨论了由于发现早发性缺失性癫痫而引起的最初诊断不确定性，并回顾了文献中报道的其他与tuba1a相关的癫痫类型。

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TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.

Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types. We report on an infant with a TUBA1A variant presenting with an evolving epileptic encephalopathy. Initially, this patient presented with infantile epileptic spasms syndrome, with the eventual appearance of atypical absence seizures before the age of 1 year. We discuss the initial diagnostic uncertainty that was raised by the finding of early onset absence epilepsy and review the other TUBA1A-related seizure types reported in the literature.

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来源期刊

Epileptic Disorders 医学-临床神经学

CiteScore

4.10

自引率

8.70%

发文量

138

审稿时长

6-12 weeks

期刊介绍： Epileptic Disorders is the leading forum where all experts and medical studentswho wish to improve their understanding of epilepsy and related disorders can share practical experiences surrounding diagnosis and care, natural history, and management of seizures. Epileptic Disorders is the official E-journal of the International League Against Epilepsy for educational communication. As the journal celebrates its 20th anniversary, it will now be available only as an online version. Its mission is to create educational links between epileptologists and other health professionals in clinical practice and scientists or physicians in research-based institutions. This change is accompanied by an increase in the number of issues per year, from 4 to 6, to ensure regular diffusion of recently published material (high quality Review and Seminar in Epileptology papers; Original Research articles or Case reports of educational value; MultiMedia Teaching Material), to serve the global medical community that cares for those affected by epilepsy.