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遗传性(特发性)光敏性癫痫发作包括局灶性和全面性发作的特征。

Genetic (idiopathic) epilepsy with photosensitive seizures includes features of both focal and generalized seizures.

机构信息

Department of Pediatrics, Peking University First Hospital, Beijing, China.

出版信息

Sci Rep. 2018 Apr 19;8(1):6254. doi: 10.1038/s41598-018-24644-0.

Abstract

Clinically, some patients having genetic (idiopathic) epilepsy with photosensitive seizures were difficult to be diagnosed. We aimed to discuss whether the genetic (idiopathic) epilepsy with photosensitive seizures is a focal entity, a generalized entity or a continuum. Twenty-two patients with idiopathic epilepsies and photoconvulsive response (PCR) were retrospectively recruited. In the medical records, the seizure types included "generalized tonic-clonic seizures (GTCS)" in 15, "partial secondarily GTCS (PGTCS)" in 3, partial seizures (PS) in 3, myoclonic seizures in 2, eyelid myoclonus in one, and only febrile seizures in one. Seizure types of PCR included GTCS (1/22), PGTCS (6/22), PS (9/22), electrical seizures (ES) (3/22) and GTCS/PGTCS (3/22). Combined the medical history with PCR results, they were diagnosed as: idiopathic (photosensitive) occipital lobe epilepsy (I(P)OE) in 12, genetic (idiopathic) generalized epilepsy (GGE) in one, GGE/I(P)OE in 5, pure photosensitive seizure in one, and epilepsy with undetermined generalized or focal seizure in 3. So, the dichotomy between generalized and focal seizures might have been out of date regarding to pathophysiological advances in epileptology. To some extent, it would be better to recognize the idiopathic epilepsy with photosensitive seizures as a continuum between focal and generalized seizures.

摘要

临床上,一些有光敏性发作的遗传性(特发性)癫痫患者难以确诊。我们旨在探讨遗传性(特发性)光敏性癫痫发作是局灶性还是全面性,或是连续的。回顾性招募了 22 例有特发性癫痫和光惊厥反应(PCR)的患者。在病历中,发作类型包括 15 例“全面强直阵挛发作(GTCS)”、3 例“部分继发 GTCS(PGTCS)”、3 例部分发作(PS)、2 例肌阵挛发作、1 例眼睑肌阵挛发作和 1 例仅热性惊厥发作。PCR 的发作类型包括 GTCS(1/22)、PGTCS(6/22)、PS(9/22)、电发作(ES)(3/22)和 GTCS/PGTCS(3/22)。结合病史和 PCR 结果,他们被诊断为:12 例特发性(光敏性)枕叶癫痫(I(P)OE)、1 例遗传性(特发性)全面性癫痫(GGE)、5 例 GGE/I(P)OE、1 例单纯光敏性发作、3 例未确定全面性或局灶性发作的癫痫。因此,全面性和局灶性发作之间的二分法可能已经过时,因为癫痫学在病理生理学方面取得了进展。在某种程度上,将光敏性特发性癫痫视为局灶性和全面性发作之间的连续体可能会更好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66e7/5908879/95510f184bbe/41598_2018_24644_Fig1_HTML.jpg

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