Pure haploinsufficiency for Dravet syndrome Na V1.1 (SCN1A) sodium channel truncating mutations

Epilepsia

Volumn 53, Issue 1, 2012, Pages 87-100

  Bechi, Giulia ^a   Scalmani, Paolo ^a   Schiavon, Emanuele ^b   Rusconi, Raffaella ^b   Franceschetti, Silvana ^a   Mantegazza, Massimo ^a,b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Calcium channel; Encephalopathy; Epilepsy; Excitability; GEFS+; Severe myoclonic epilepsy of infancy

Indexed keywords

COMPLEMENTARY DNA; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.3; SODIUM CHANNEL NAV1.6;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL STRAIN HEK293; DOWN REGULATION; EMBRYO; EMBRYO CELL; GENE MUTATION; GENETIC TRANSFECTION; HAPLOINSUFFICIENCY; HIPPOCAMPUS; HUMAN; HUMAN CELL; KIDNEY CELL; MOUSE; NEUROMA; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT;

ANIMALS; CELL LINE; ELECTROPHYSIOLOGY; EPILEPSIES, MYOCLONIC; HAPLOINSUFFICIENCY; HEK293 CELLS; HIPPOCAMPUS; HUMANS; MICE; MICE, KNOCKOUT; MUTAGENESIS; NERVE TISSUE PROTEINS; NEURONS; PATCH-CLAMP TECHNIQUES; PLASMIDS; SODIUM CHANNELS; SYNDROME; TRANSFECTION;

EID: 84855417355     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03346.x     Document Type: Article

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