Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 43, 2013, Pages 17546-17551

  Cestèle, Sandrine ^a   Schiavon, Emanuele ^a   Rusconi, Raffaella ^a   Franceschetti, Silvana ^b   Mantegazza, Massimo ^a  

^a INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Ankyrin; Calmodulin; Dravet syndrome; Generalized epilepsy with febrile seizures plus; Spreading depression

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; SODIUM CHANNEL NAV1.1; ANKYRIN; CALMODULIN;

ARTICLE; EMBRYO; FAMILIAL HEMIPLEGIC MIGRAINE; GENE FUNCTION; HUMAN; HUMAN CELL; LOW TEMPERATURE; MOUSE EMBRYO; NERVE CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; ALGORITHM; AMINO ACID SUBSTITUTION; ANIMAL; C57BL MOUSE; CELL CULTURE; CELL LINE; CHANNEL GATING; CHEMISTRY; COMPUTER SIMULATION; GENETICS; MEMBRANE POTENTIAL; METABOLISM; MIGRAINE WITH AURA; MOUSE; MUTATION; PATCH CLAMP TECHNIQUE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SPREADING CORTICAL DEPRESSION;

ALGORITHMS; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE; CELLS, CULTURED; COMPUTER SIMULATION; GABAERGIC NEURONS; HUMANS; ION CHANNEL GATING; MEMBRANE POTENTIALS; MICE; MICE, INBRED C57BL; MIGRAINE WITH AURA; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NEURONS; PATCH-CLAMP TECHNIQUES;

ANKYRIN; CALMODULIN; DRAVET SYNDROME; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; SPREADING DEPRESSION;

EID: 84886391619     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1309827110     Document Type: Article

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