Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

Neurobiology of Disease

Volumn 47, Issue 3, 2012, Pages 378-384

  Lossin, Christoph ^a   Shi, Xiuyu ^b,c   Rogawski, Michael A ^a   Hirose, Shinichi ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b FUKUOKA UNIVERSITY   (Japan)

^c CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Dravet syndrome; Electrophysiology; Epilepsy; Mutation; Nav1.2; Patch clamp; SCN2A

Indexed keywords

SODIUM CHANNEL NAV1.2;

ACTION POTENTIAL; AMINO ACID SUBSTITUTION; ARTICLE; BIOPHYSICS; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPOLARIZATION; LOSS OF FUNCTION MUTATION; NERVE EXCITABILITY; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REDUCTION KINETICS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CHANNELOPATHY; SODIUM CURRENT; VOLTAGE CLAMP; WHOLE CELL;

ARGININE; BIOPHYSICAL PROCESSES; ELECTRIC STIMULATION; EPILEPSIES, MYOCLONIC; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MEMBRANE POTENTIALS; MUTAGENESIS, SITE-DIRECTED; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; THREONINE; TIME FACTORS; TRANSFECTION;

EID: 84862270691     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.05.017     Document Type: Article

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