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  • Title: Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Author: Yang Y, Xiangwei W, Zhang X, Xiao J, Chen J, Yang X, Jia T, Yang Z, Jiang Y, Zhang Y.
    Journal: Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847.
    Abstract:
    AIM: To characterize the different phenotypes of GABRB2-related epilepsy and to establish a genotype-phenotype correlation. METHOD: We used next-generation sequencing to identify GABRB2 variants in 15 patients. RESULTS: Eleven GABRB2 variants were novel and 12 were de novo. The age at the onset of seizures ranged from 1 day to 26 months. Nine patients had multiple seizure types, including focal seizures, generalized tonic-clonic seizures, myoclonic seizures, epileptic spasms, and atonic seizures. Seizures were fever-sensitive in 13 out of the 15 patients. Eleven patients displayed developmental delay, while 11 had abnormal video electroencephalography. Abnormalities in the brain images included dysplasia of the frontal and temporal cortex, dysplasia of the corpus callosum, and delayed myelination in four patients. One patient was diagnosed with febrile seizures, three with febrile seizures plus, three with Dravet syndrome, three with West syndrome, one with Ohtahara syndrome, three with developmental delays and epilepsy, and one with non-specific early-onset epileptic encephalopathy. INTERPRETATION: The most common phenotypes of patients with GABRB2 variants include early onset of seizure and fever sensitivity. Febrile seizures and febrile seizures plus are new phenotypes of GABRB2 variants. The phenotypic spectrum of GABRB2 variants ranges from mild febrile seizures to severe epileptic encephalopathy. 目的: 总结GABRB2基因相关癫痫的不同表型特点及基因型-表型相关性研究 方法: 采用二代测序技术的方法发现15例患者携带GABRB2基因变异 结果: 15例GABRB2基因变异中11例为新发现的变异，12例为新生变异。癫痫起病年龄范围从生后第1天至26月龄。共有9名患者有多种癫痫发作形式，包括局灶性发作，全面性强直阵挛发作，肌阵挛发作，癫痫性痉挛发作和失张力发作。15例患者中有13例出现癫痫热敏感。11例患者出现发育落后，且有脑电图异常。4例患者出现头颅影像异常，包括额颞区皮质发育不良，胼胝体发育不良，髓鞘化延迟。癫痫诊断包括热性惊厥1例，热性惊厥附加症3例，Dravet综合征3例，婴儿痉挛症3例，大田原综合征1例，发育落后与癫痫3例，不能分类的早发癫痫性脑病1例。 结论: GABRB2基因变异导致的最常见表型包括癫痫起病年龄早和癫痫热敏感。热性惊厥和热性惊厥附加症是GABRB2基因变异的新表型。GABRB2基因变异的表型谱广泛，从表型轻的热性惊厥到严重的癫痫性脑病。.
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