PDF(Pubmed)
Abstract：
UNASSIGNED: Synaptotagmin 1 (SYT1), the predominant SYT isoform in the central nervous system, likely acts by promoting vesicle docking, deforming the plasma membrane via Ca2+-dependent membrane penetration.
UNASSIGNED: Here, we describe a 21-year-old woman harboring a novel variant in the SYT1 gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis.
UNASSIGNED: Based on our case and literature review on the 22 previously described patients, we can confirm a complex neurodevelopmental disorder in which, unlike other synaptopathies, epilepsy is present in a subset of cases (including our patient: 5/23, 22%), although characteristic EEG changes are far more common (10/23, 43.5%). Our patient\'s age allows us to provide long-term follow-up data and thus better delineate the SYT1-related clinical phenotype.
UNASSIGNED: Here, we describe a 21-year-old woman harboring a novel variant in the SYT1 gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis.
UNASSIGNED: Based on our case and literature review on the 22 previously described patients, we can confirm a complex neurodevelopmental disorder in which, unlike other synaptopathies, epilepsy is present in a subset of cases (including our patient: 5/23, 22%), although characteristic EEG changes are far more common (10/23, 43.5%). Our patient\'s age allows us to provide long-term follow-up data and thus better delineate the SYT1-related clinical phenotype.
摘要：
■Synaptotagmin1(SYT1)，中枢神经系统中主要的SYT同工型，可能通过促进囊泡对接而起作用，通过Ca2+依赖性膜渗透使质膜变形。
■这里，我们描述了一个21岁的女性，在SYT1基因中有一个新的变异，表现出复杂的表型，以严重的智力残疾为特征，缺席演讲,行为异常,运动刻板印象，她的手的张力姿势，她童年时期的运动过度障碍，婴儿张力减退,流涎,轻度畸形特征，癫痫,特殊的脑电图发现，和严重的脊柱侧弯.
■根据我们的病例和先前描述的22名患者的文献回顾，我们可以证实一种复杂的神经发育障碍，与其他突触疗法不同，癫痫存在于一个亚组病例中（包括我们的患者：5/23，22%），尽管特征性脑电图变化更为常见（10/23，43.5％）。我们患者的年龄使我们能够提供长期随访数据，从而更好地描绘SYT1相关的临床表型。
■这里，我们描述了一个21岁的女性，在SYT1基因中有一个新的变异，表现出复杂的表型，以严重的智力残疾为特征，缺席演讲,行为异常,运动刻板印象，她的手的张力姿势，她童年时期的运动过度障碍，婴儿张力减退,流涎,轻度畸形特征，癫痫,特殊的脑电图发现，和严重的脊柱侧弯.
■根据我们的病例和先前描述的22名患者的文献回顾，我们可以证实一种复杂的神经发育障碍，与其他突触疗法不同，癫痫存在于一个亚组病例中（包括我们的患者：5/23，22%），尽管特征性脑电图变化更为常见（10/23，43.5％）。我们患者的年龄使我们能够提供长期随访数据，从而更好地描绘SYT1相关的临床表型。
