Nav1. 1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
T Sugawara, Y Tsurubuchi, T Fujiwara… - Epilepsy research, 2003 - Elsevier
Severe myoclonic epilepsy in infancy (SMEI) is characterized by intractable febrile and
afebrile seizures, severe mental decline, and onset during the first year of life. Nonsense,
frameshift, and missense mutations of SCN1A gene encoding the voltage-gated Na+
channel α-subunit type I (Nav1. 1) have been identified in patients with SMEI. Here, we
performed whole-cell patch-clamp analyses on HEK293 cells expressing human Nav1. 1
channels bearing SMEI nonsense and missense mutations. The mutant channels showed …
afebrile seizures, severe mental decline, and onset during the first year of life. Nonsense,
frameshift, and missense mutations of SCN1A gene encoding the voltage-gated Na+
channel α-subunit type I (Nav1. 1) have been identified in patients with SMEI. Here, we
performed whole-cell patch-clamp analyses on HEK293 cells expressing human Nav1. 1
channels bearing SMEI nonsense and missense mutations. The mutant channels showed …
