Abstract：
DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the detailed clinical manifestations of a female patient, carrying a novel de novo variant in DYNC1H1 (p.H311Y), who presented with malformation of cortical development (MCD), refractory epilepsy, intellectual disability, and lower motor neuron disease. We provide a review of previously reported patients who presented with epilepsy associated with DYNC1H1 variants. Of the patients with epilepsy, the DYNC1H1 variants were distributed, on average, in the tail, linker, and motor domains, rather than being mainly distributed in the tail domain as previously reported.
摘要：
DYNC1H1变异与广泛的表型相关，包括Charcot-Marie-Tooth病，脊髓性肌萎缩症,和智力迟钝。然而,到目前为止，尚未对DYNC1H1变体相关的难治性癫痫进行详细描述。在这里，我们描述了女性患者的详细临床表现，在DYNC1H1中携带新的从头变体（p。H311Y),表现为皮质发育畸形（MCD），难治性癫痫,智力残疾,和下运动神经元疾病。我们提供了以前报道的与DYNC1H1变异相关的癫痫患者的综述。在癫痫患者中，分布了DYNC1H1变体，平均而言,在尾巴上，连接体,和运动域，而不是像以前报道的那样主要分布在尾部域中。
