Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epileptic encephalopathy. Like the two other cases reported, our patient is also of Filipino descent. Clinical features include microcephaly, poor visual motor development, shallow breathing, severe hypertonia in extremities, severe global developmental delay, poor gag and suck reflex, failure to thrive in the neonatal period, and early onset intractable seizures. Brain MRI showed hypoplasia of corpus callosum as well as cerebellar vermis, global volume loss and diminished myelination for her age. Electroencephalogram at four months of age showed background consisting of synchronous and asynchronous intervals of burst suppression with intermittent multifocal spikes predominantly in the bi-temporal region, suggestive of Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS) which has not been previously associated with the c.115 C > T variant in AIMP1. Of note, she presented to us in super refractory status epilepticus which was eventually controlled after administration of ketogenic diet and Epidiolex (cannabidiol). This report expands the genetic landscape of EOEE-BS. This is the first case of this specific variant in which Epidiolex was administered, which along with Ketogenic diet aided in controlling patient's super refractory status epilepticus.

AIMP1基因的致病变异是神经系统疾病的罕见原因。在严重的神经退行性疾病中已经描述了AIMP1中的纯合移码和无意义变体。这是AIMP1中纯合性无义变异的第三次报告[c.115 C> T（p.Gln39 *）]在一名患有严重新生儿发作性癫痫性脑病的女孩中。像报告的其他两个案例一样，我们的患者也是菲律宾裔。临床特征包括小头畸形，视觉运动发育不良，呼吸浅，四肢严重高渗，严重的整体发育延迟，插科打suck和吮吸反射不良，在新生儿期无法壮成长以及较早发作的顽固性癫痫发作。脑部MRI显示showed体和小脑ver部发育不全，整体体积减少以及该年龄段的髓鞘减少。4个月大的脑电图显示背景包括猝发抑制的同步和异步间隔以及间歇性多焦点峰，主要出现在双时相区域，AIMP1。值得注意的是，她向我们介绍了处于超难治状态的癫痫病，在服用生酮饮食和Epidiolex（cannabidiol）后最终得以控制。该报告扩展了EOEE-BS的遗传景观。这是施用Epidiolex的这种特定变体的第一种情况，它与生酮饮食一起有助于控制患者的超难治性癫痫病状态。