Joubert综合征的癫痫:仍有一些探索的问题

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2022-08-23 DOI:10.1055/s-0042-1759540

Adriana Prato, Anna Scuderi, Greta Amore, Giulia Spoto, V. Salpietro, A. Ceravolo, G. Farello, G. Iapadre, E. Pironti, Daniela Dicanio, G. Rosa

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引用次数: 0

摘要

癫痫很少与Joubert综合征及相关疾病(JSRD)相关，仅3%的病例被报道。此外，很少有患者被描述为特定癫痫发作的符号学或药物治疗的标准实践证据不足。癫痫可能与纤毛病中的脑畸形有关。除了典型的后脑畸形、臼齿征外，JSRD中报道的其他大脑异常，如广泛性多小回畸形、错构瘤、脑室周围结节性异位和海马缺陷，都有报道。在此，我们旨在修订癫痫与JSRD相关的主要临床和发病特征。

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Epilepsy in Joubert Syndrome: A Still Few Explored Matter

Abstract Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.

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来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.