Different degrees of loss of function between GEFS+ and SMEI Na v1.1 missense mutants at the same residue induced by rescuable folding defects

Epilepsia

Volumn 53, Issue 6, 2012, Pages

  Sugiura, Yoshihiro ^a   Ogiwara, Ikuo ^b   Hoshi, Akihiko ^a   Yamakawa, Kazuhiro ^b   Ugawa, Yoshikazu ^a,c  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^b RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Epilepsy; Febrile seizures; Myoclonic epilepsy; Sodium channel

Indexed keywords

SODIUM CHANNEL NAV1.1;

AMINO ACID SUBSTITUTION; ARTICLE; BETA CHAIN; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEBRILE CONVULSION; GENE EXPRESSION; GENERALIZED EPILEPSY; GENERALIZED EPILEPSY WITH FEBRILE SEIZURE PLUS; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

ARGININE; ASPARTIC ACID; BIOPHYSICS; CELL LINE, TRANSFORMED; ELECTRIC STIMULATION; EPILEPSIES, MYOCLONIC; HUMANS; MEMBRANE POTENTIALS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PATCH-CLAMP TECHNIQUES; SEIZURES, FEBRILE; SODIUM CHANNELS; TRANSFECTION; VALINE;

EID: 84861811474     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2012.03467.x     Document Type: Article

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