Neurology Department, American University of Beirut Medical Center, Beirut, Lebanon.
Epilepsia Open. 2021 Jan 7;6(1):73-78. doi: 10.1002/epi4.12451. eCollection 2021 Mar.
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.
seizure threshold-2 (SZT2) 基因变异与癫痫发作阈值降低有关，导致表型表达多样，从无癫痫发作的轻度至中度智力障碍，到早发性癫痫性脑病伴严重认知障碍。此外，大多数患者存在肌张力低下和特征性的面部畸形，包括高额头，在较小程度上存在上睑下垂和下斜的睑裂。我们在此报告一例新型 SZT2 变异，该变异发生在两名均被诊断为婴儿癫痫伴局灶性游走性发作（EIMFS）的兄弟姐妹之一中。这是第四次报道 EIMFS 中可能的家族病例，此前 EIMFS 与 SZT2 变异无关。该报告扩展了 SZT2 的表型表达，证实了在某些 EIMFS 病例中遗传咨询的重要性，并强调了溴化钾在控制该疾病相关癫痫发作方面的疗效。
