Lee Inn-Chi
Division of Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung 40201, Taiwan.
Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung 40201, Taiwan.
Life (Basel). 2021 Nov 16;11(11):1244. doi: 10.3390/life11111244.
Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a critical issue as early onset seizures can mimic the presentation of neurometabolic disorders. Seizures in channelopathies can either be focal or generalized, and range in severity from benign to epileptic encephalopathies that may lead to developmental regression and eventually premature death. The presenting symptoms of channelopathies are challenging for clinicians to decipher, such that an extensive diagnostic survey through a precise step-by-step process is vital. Early diagnosis of a newborn's disease, either as a channelopathy or neurometabolic disorder, is important for the long-term neurodevelopment of the child.
离子通道疾病（通道病）可影响出生后2个月内新生儿的任何器官系统，包括骨骼肌和中枢神经系统。新生儿通道病可表现为癫痫发作障碍，这是一个关键问题，因为早发性癫痫发作可能类似神经代谢疾病的表现。通道病中的癫痫发作可为局灶性或全身性，严重程度从良性到可能导致发育倒退并最终过早死亡的癫痫性脑病不等。通道病的症状表现对临床医生来说难以解读，因此通过精确的逐步流程进行广泛的诊断调查至关重要。新生儿疾病无论是通道病还是神经代谢疾病，早期诊断对儿童的长期神经发育都很重要。
