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Abstract：
Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no studies demonstrating an association between this gene and West syndrome.
In the case presented here, epileptic spasms appeared at 7 months; electroencephalogram (EEG) investigation confirmed hypsarrhythmia, resulting in a diagnosis of West syndrome. The patient exhibited peculiar facies, hypotonia, failure to thrive, and severe global developmental delay.
Cranial magnetic resonance imaging (MRI) revealed severe delayed myelination. 123I-iomazenil SPECT image at 7 months demonstrated decreased accumulation in bilateral areas, including the primary somatosensory and motor cortices, and the primary and association visual areas compared to an age-matched control. Whole exome sequencing analysis demonstrated a novel de novo heterozygous missense variant in KIF5A, (NM_004984.4:c.710A>T: p. Glu237Val).
It was concluded that the KIF5A variant impaired the transport of GABAA receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy.
In the case presented here, epileptic spasms appeared at 7 months; electroencephalogram (EEG) investigation confirmed hypsarrhythmia, resulting in a diagnosis of West syndrome. The patient exhibited peculiar facies, hypotonia, failure to thrive, and severe global developmental delay.
Cranial magnetic resonance imaging (MRI) revealed severe delayed myelination. 123I-iomazenil SPECT image at 7 months demonstrated decreased accumulation in bilateral areas, including the primary somatosensory and motor cortices, and the primary and association visual areas compared to an age-matched control. Whole exome sequencing analysis demonstrated a novel de novo heterozygous missense variant in KIF5A, (NM_004984.4:c.710A>T: p. Glu237Val).
It was concluded that the KIF5A variant impaired the transport of GABAA receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy.
摘要：
驱动蛋白家族成员5A（KIF5A）是一种负责细胞内运输的分子运动蛋白，特别是在神经元中。虽然KIF5A基因的异常已在各种神经系统疾病的发作中被报道，没有研究证明该基因与West综合征有关联.
在这里介绍的案例中，癫痫性痉挛出现在7个月;脑电图（EEG）调查证实心律失常，从而诊断出West综合征.病人表现出奇特的相，低张力,未能茁壮成长，和严重的全球发育迟缓。
头颅磁共振成像（MRI）显示严重延迟髓鞘形成。123I-iomazenilSPECT图像在7个月时显示双侧区域的积累减少，包括初级体感和运动皮层，以及与年龄匹配的对照相比的主要和关联视觉区域。全外显子组测序分析显示了KIF5A中的一个新的从头杂合错义变体，(NM_004984.4:c.710A>T:p.Glu237Val)。
结论是KIF5A变体损害了GABAA受体向细胞膜表面的转运，从而导致这些受体在大脑区域之间的失衡，并导致癫痫发作。
在这里介绍的案例中，癫痫性痉挛出现在7个月;脑电图（EEG）调查证实心律失常，从而诊断出West综合征.病人表现出奇特的相，低张力,未能茁壮成长，和严重的全球发育迟缓。
头颅磁共振成像（MRI）显示严重延迟髓鞘形成。123I-iomazenilSPECT图像在7个月时显示双侧区域的积累减少，包括初级体感和运动皮层，以及与年龄匹配的对照相比的主要和关联视觉区域。全外显子组测序分析显示了KIF5A中的一个新的从头杂合错义变体，(NM_004984.4:c.710A>T:p.Glu237Val)。
结论是KIF5A变体损害了GABAA受体向细胞膜表面的转运，从而导致这些受体在大脑区域之间的失衡，并导致癫痫发作。
