Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy

Epilepsia

Volumn 47, Issue 10, 2006, Pages 1636-1642

  Ohmori, Iori ^a   Kahlig, Kristopher M ^a   Rhodes, Thomas H ^a   Wang, Dao W ^a   George Jr , Alfred L ^a  

^a VANDERBILT UNIVERSITY   (United States)

Author keywords

Basic electrophysiology; Inherited epilepsy; SCN1A; SMEI; Sodium channel

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GENE FUNCTION; GENE MUTATION; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; MARKER GENE; MYOCLONUS EPILEPSY; PATCH CLAMP; PRIORITY JOURNAL; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY OF INFANCY; SODIUM CURRENT; STEADY STATE;

EPILEPSIES, MYOCLONIC; GENE EXPRESSION; HUMANS; MEMBRANE POTENTIALS; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PATCH-CLAMP TECHNIQUES; PHENOTYPE; SODIUM CHANNELS;

EID: 33749665782     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2006.00643.x     Document Type: Article

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