Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression

Journal of Biological Chemistry

Volumn 287, Issue 50, 2012, Pages 42001-42008

  Thompson, Christopher H ^a   Porter, J Christopher ^a   Kahlig, Kristopher M ^b   Daniels, Melissa A ^a   George, Alfred L ^a,b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOLOGY; GENE EXPRESSION; NEUROLOGY; SODIUM;

ANTIEPILEPTICS DRUGS; CELL SURFACE EXPRESSION; DELETION MUTATIONS; ENCODINGS; FUNCTIONAL EXPRESSION; LAMOTRIGINE; PHENYTOIN; SODIUM CHANNEL; SURFACE EXPRESSION; WILD TYPES;

CELL MEMBRANES;

LAMOTRIGINE; MUTANT PROTEIN; PHENYTOIN; SODIUM CHANNEL AFFECTING AGENT; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG; VRT 325;

ALLELE; ARTICLE; CELL MEMBRANE; CELL SURFACE; CONTROLLED STUDY; DISEASE ASSOCIATION; DRUG EFFECT; EMBRYO; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TRANSPORT; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT; WILD TYPE;

EID: 84871296521     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.421883     Document Type: Article

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