由于从头 KCNT1 错义变异而导致的婴儿期癫痫发作的挑战性病例 ( c.1438 G > A ,p. Asp480Asn) 。
关键词: De novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn) Epilepsy in infancy with migrating focal seizures KCNT1-related epilepsy Long-term v-EEG monitoring Paralytic ileus Whole exome sequencing
Mesh : Humans Mutation, Missense Infant Potassium Channels, Sodium-Activated / genetics Seizures / genetics Nerve Tissue Proteins / genetics Male Epilepsy / genetics Potassium Channels, Voltage-Gated / genetics Female Epilepsies, Partial / genetics physiopathology Electroencephalography
来 源: DOI:10.1016/j.seizure.2024.02.020