Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Neurobiology of Disease

Volumn 75, Issue , 2015, Pages 100-114

  Bechi, Giulia ^a   Rusconi, Raffaella ^b   Cestèle, Sandrine ^b   Striano, Pasquale ^c   Franceschetti, Silvana ^a   Mantegazza, Massimo ^b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

Dravet syndrome; Epileptic encephalopathy; Folding; GEFS+; Rescue; Sodium channel; Toxin

Indexed keywords

ANKYRIN; CALMODULIN BINDING PROTEIN; NEUROTOXIN; PHENYTOIN; SODIUM CHANNEL NAV1.1; VALPROIC ACID; VOLTAGE GATED SODIUM CHANNEL; AGENTS AFFECTING WATER, MOLECULE OR ION TRANSPORT; SCN1A PROTEIN, HUMAN; SCORPION TOXIN II, ANDROCTONUS; SCORPION VENOM;

ABSENCE; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; ASPERGER SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; ENDOPLASMIC RETICULUM; EPILEPSY; EXON; FEMALE; FEVER; FOCAL EPILEPSY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INCUBATION TEMPERATURE; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; LANGUAGE DELAY; LENNOX GASTAUT SYNDROME; LOW TEMPERATURE; MALE; MISSENSE MUTATION; MOLECULAR INTERACTION; MYOCLONUS SEIZURE; PANIC; PATCH CLAMP TECHNIQUE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN REFOLDING; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT; TONIC CLONIC SEIZURE; WESTERN BLOTTING; BIOLOGICAL MODEL; CHEMISTRY; DRUG EFFECTS; ESCHERICHIA COLI; GENETIC TRANSFECTION; GENETICS; IMMUNOHISTOCHEMISTRY; MEMBRANE POTENTIAL; METABOLISM; PHYSIOLOGY; PROTEIN FOLDING; TRANSFORMED CELL LINE;

BLOTTING, WESTERN; CELL LINE, TRANSFORMED; ENDOPLASMIC RETICULUM; EPILEPSY; ESCHERICHIA COLI; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE POTENTIALS; MEMBRANE TRANSPORT MODULATORS; MODELS, NEUROLOGICAL; MUTATION, MISSENSE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PROTEIN FOLDING; SCORPION VENOMS; TRANSFECTION;

EID: 84921457359     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2014.12.028     Document Type: Article

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