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Abstract：
OBJECTIVE: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations.
METHODS: Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Clinical and anamnestic features and home videos of seven additional patients (4 female; age: 4-14 years) with SYNGAP1 mutation and eating induced reflex seizures were compared.
RESULTS: All reflex seizures of the index patient showed similar focal EEG pattern with 1-5 seconds high amplitude, irregular 3/sec spike-wave complexes with initiation from left temporo-occipital, right temporo-occipital or bi- occipital / temporo-occipital regions. Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli. In the index patient eye closure preceded eating induced-eyelid myoclonia in 30/38 seizures.
CONCLUSIONS: The main clinical features of our patient (i.e. intellectual disability, epilepsy, autistic features) are compatible with previous reports on patients with SYNGAP1 mutations. This is the first complete description of eating induced seizures in association with SYNGAP1 mutations. Whether eye closure sensitivity (ECS) represents an independent reflex epileptic trait, as seen in other patients with idiopathic \"generalized\" epilepsies (IGE), or eye closure is part of a complex trigger mechanism in SYNGAP1 patients\' remains to be elucidated.
METHODS: Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Clinical and anamnestic features and home videos of seven additional patients (4 female; age: 4-14 years) with SYNGAP1 mutation and eating induced reflex seizures were compared.
RESULTS: All reflex seizures of the index patient showed similar focal EEG pattern with 1-5 seconds high amplitude, irregular 3/sec spike-wave complexes with initiation from left temporo-occipital, right temporo-occipital or bi- occipital / temporo-occipital regions. Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli. In the index patient eye closure preceded eating induced-eyelid myoclonia in 30/38 seizures.
CONCLUSIONS: The main clinical features of our patient (i.e. intellectual disability, epilepsy, autistic features) are compatible with previous reports on patients with SYNGAP1 mutations. This is the first complete description of eating induced seizures in association with SYNGAP1 mutations. Whether eye closure sensitivity (ECS) represents an independent reflex epileptic trait, as seen in other patients with idiopathic \"generalized\" epilepsies (IGE), or eye closure is part of a complex trigger mechanism in SYNGAP1 patients\' remains to be elucidated.
摘要：
目的：杂合SYNGAP1基因突变与几种形式的特发性全身性癫痫有关，自闭症谱系障碍和精神运动发育延迟。我们报告了8例SYNGAP1突变和咀嚼/进食诱发的反射性癫痫发作为新表型的患者，并将其与其他进食性癫痫和基因突变的患者进行了比较。
方法：介绍具有SYNGAP1突变和咀嚼/进食诱发癫痫发作的4岁指数患者的临床和记忆特征以及视频脑电图数据的回顾性分析。比较了7例SYNGAP1突变患者（4名女性；年龄：4-14岁）的临床和记忆特征以及家庭录像，以及进食引起的反射性癫痫发作。
结果：索引患者的所有反射性癫痫发作都显示出相似的局灶性脑电图模式，振幅高1-5秒，不规则的3/sec尖峰波复合物，从左侧颞枕骨开始，右颞枕骨或双枕骨/颞枕区。眼睑肌阵挛症，所有8名患者中最常见的癫痫发作类型，通常是通过进食或其他简单的口面刺激开始的。在索引中，患者在30/38癫痫发作中进食诱发的眼睑肌阵挛症之前，眼睛闭合。
结论：我们患者的主要临床特征（即智力残疾，癫痫,自闭症特征）与以前关于SYNGAP1突变患者的报告兼容。这是与SYNGAP1突变相关的进食诱发癫痫的第一个完整描述。闭眼敏感性（ECS）是否代表独立的反射性癫痫特征，如其他特发性“全身性”癫痫（IGE）患者所见，或闭眼是SYNGAP1患者复杂触发机制的一部分，尚待阐明。
方法：介绍具有SYNGAP1突变和咀嚼/进食诱发癫痫发作的4岁指数患者的临床和记忆特征以及视频脑电图数据的回顾性分析。比较了7例SYNGAP1突变患者（4名女性；年龄：4-14岁）的临床和记忆特征以及家庭录像，以及进食引起的反射性癫痫发作。
结果：索引患者的所有反射性癫痫发作都显示出相似的局灶性脑电图模式，振幅高1-5秒，不规则的3/sec尖峰波复合物，从左侧颞枕骨开始，右颞枕骨或双枕骨/颞枕区。眼睑肌阵挛症，所有8名患者中最常见的癫痫发作类型，通常是通过进食或其他简单的口面刺激开始的。在索引中，患者在30/38癫痫发作中进食诱发的眼睑肌阵挛症之前，眼睛闭合。
结论：我们患者的主要临床特征（即智力残疾，癫痫,自闭症特征）与以前关于SYNGAP1突变患者的报告兼容。这是与SYNGAP1突变相关的进食诱发癫痫的第一个完整描述。闭眼敏感性（ECS）是否代表独立的反射性癫痫特征，如其他特发性“全身性”癫痫（IGE）患者所见，或闭眼是SYNGAP1患者复杂触发机制的一部分，尚待阐明。
