Patient's question:
Brief loss of consciousness, as well as facial cyanosis, apnea, and dilated pupils, etc.Doctor's answer:
This disease is rarely seen in clinical practice and is a highly penetrant autosomal dominant genetic chromosomal disorder. In its families, multiple generations of newborns experience convulsions, but subsequent mental and neurological development is normal. The disease typically manifests between 2 to 3 days after birth, presenting as clonic or asphyxial seizures, which eventually evolve into tonic seizures. Daily seizures can occur dozens of times, each lasting from a few seconds to several tens of seconds. During seizures, there are no specific findings on electroencephalography. Generally, the condition resolves spontaneously within 2 to 4 weeks, and approximately 14% of patients may develop epilepsy. Neonatal convulsions exhibit a wide variety of presentations, and diagnosis should focus on excluding other causes of neonatal seizures. Antiepileptic drugs can be used during episodes of this disease, but long-term use is not recommended.