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Abstract：
Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), myoclonic-atonic epilepsy (MAE), and others.
We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next-generation sequencing (NGS)-based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter).
A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS-like linked with GABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is reported.
We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next-generation sequencing (NGS)-based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter).
A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS-like linked with GABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is reported.
摘要：
已经在患有不同类型的癫痫和癫痫综合征的受试者中发现了GABRB3的突变，包括韦斯特综合征（WS），德拉韦综合征（DS），Lennox-Gastaut综合征(LGS),肌阵挛性-无张力癫痫（MAE），和其他人。
我们在此报道一名受DS影响的女孩，从婴儿期一直追踪到现在的18岁。基于下一代测序（NGS）的基因检测用于神经发育障碍的多基因分析，确定了两个可能的从头致病性突变，GABRB3基因中的一个错义变体(c.842C>T;p.Thr281IIe)和BBS4基因中的一个无义变体(c.883C>T;p.Arg295Ter)。
提出了新的GABRB3基因变异与女孩的临床表现之间的可能关系。以前,已经报道了1例DS和2例与GABRB3突变相关的DS样突变。据我们所知,这是与该新变体相关的DS的首次报道。报道了与GABRB3突变相关的各种类型的癫痫性脑病（EEs）的临床病例的文献综述。
我们在此报道一名受DS影响的女孩，从婴儿期一直追踪到现在的18岁。基于下一代测序（NGS）的基因检测用于神经发育障碍的多基因分析，确定了两个可能的从头致病性突变，GABRB3基因中的一个错义变体(c.842C>T;p.Thr281IIe)和BBS4基因中的一个无义变体(c.883C>T;p.Arg295Ter)。
提出了新的GABRB3基因变异与女孩的临床表现之间的可能关系。以前,已经报道了1例DS和2例与GABRB3突变相关的DS样突变。据我们所知,这是与该新变体相关的DS的首次报道。报道了与GABRB3突变相关的各种类型的癫痫性脑病（EEs）的临床病例的文献综述。
