Department of Pediatrics, Klinikum Schwäbisch Hall, Schwäbisch Hall, Germany.
MGZ Medizinisch Genetisches Zentrum, München, Germany.
Neuropediatrics. 2023 Jun;54(3):206-210. doi: 10.1055/a-2019-0136. Epub 2023 Jan 24.
Synapsins are neuron-specific phosphoproteins that modulate neurotransmitter release, synaptic plasticity, and molecular processes shaping higher brain functions. Pathogenic synapsin-1 () variants are associated with epilepsy, intellectual disabilities, and behavioral problems. We detected a novel variant [c.477_479delTGG (p.Gly160del)] in brothers with focal epilepsy with secondary generalization. The deleted amino acid was found to be highly conserved among mammalian species. In electroencephalography, the older brother showed a bioelectrical status epilepticus and was also diagnosed with attention deficit hyperactivity disorder. Behavioral abnormalities were seen before or after the seizures. Both patients responded quickly to treatment with valproate. Our case reports are consistent with the clinical heterogeneity of the pathogenic variants described in the literature.
突触蛋白是神经元特异性磷酸化蛋白，可调节神经递质释放、突触可塑性和塑造大脑高级功能的分子过程。致病性突触蛋白-1 ( ) 变体与癫痫、智力障碍和行为问题有关。我们在患有局灶性癫痫伴继发全面性发作的兄弟中检测到一种新型 [c.477_479delTGG (p.Gly160del)] 变异。缺失的氨基酸在哺乳动物中高度保守。在脑电图中，哥哥表现出电生理癫痫持续状态，还被诊断为注意缺陷多动障碍。在发作之前或之后出现行为异常。两位患者均对丙戊酸钠治疗反应迅速。我们的病例报告与文献中描述的致病性 变异的临床异质性一致。
