Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
| Autor: | Tateki Fujiwara, Keiichi Nagata, Yushi Inoue, Yuji Tsurubuchi, Kazuhiro Yamakawa, Takashi Sugawara, Mauricio Montal, Emi Mazaki-Miyazaki |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
medicine.medical_specialty
media_common.quotation_subject Nonsense Epilepsies Myoclonic Nerve Tissue Proteins Sodium Channels Cell Line Frameshift mutation Epilepsy Internal medicine medicine Humans Missense mutation media_common business.industry Sodium channel medicine.disease NAV1.1 Voltage-Gated Sodium Channel Endocrinology Neurology Mutation Myoclonic epilepsy Neurology (clinical) medicine.symptom business Myoclonus Generalized epilepsy with febrile seizures plus Neuroscience |
| Zdroj: | Epilepsy Research. 54:201-207 |
| ISSN: | 0920-1211 |
| Popis: | 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 (Na v 1.1) have been identified in patients with SMEI. Here, we performed whole-cell patch-clamp analyses on HEK293 cells expressing human Na v 1.1 channels bearing SMEI nonsense and missense mutations. The mutant channels showed remarkably attenuated or barely detectable inward sodium currents. Our findings indicate that SMEI mutations lead to loss-of-function and may contribute to the development of SMEI phenotypes. |
| Databáze: | OpenAIRE |
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