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Abstract：
Seizure threshold-2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority. We herein report a novel SZT2 variant in one of two siblings both diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). This report is the fourth to document a possible familial case in EIMFS, a condition that was not previously associated with SZT2 variant. This report expands the phenotypic expression of SZT2, corroborates the importance of genetic counseling in some cases of EIMFS, and highlights the efficacy of potassium bromide in controlling the seizures associated with this condition.
摘要：
癫痫发作阈值-2（SZT2）基因变异与癫痫发作阈值的降低有关，导致从轻度-中度智力障碍到无癫痫发作的可变表型表达。严重认知障碍的早发性癫痫性脑病。此外,肌张力减退和独特的面部畸形，包括高额头和较小程度的下垂和下倾斜的睑裂，大多数人都在场。我们在此报告了两个兄弟姐妹之一的一种新的SZT2变体，这两个兄弟姐妹都被诊断为婴儿期癫痫伴迁移局灶性癫痫发作（EIMFS）。本报告是在EIMFS中记录可能的家庭病例的第四份报告，以前与SZT2变体无关的条件。该报告扩展了SZT2的表型表达，证实了遗传咨询在某些EIMFS病例中的重要性，并强调了溴化钾在控制与这种情况相关的癫痫发作方面的功效。
