Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions

Neuroscience Letters

Volumn 462, Issue 1, 2009, Pages 24-29

  Volkers, Linda ^a   Rook, Martin B ^a   Das, Joost H G ^a   Verbeek, Nienke E ^a   Groenewegen, W Antoinette ^a   van Kempen, Marjan J A ^a   Lindhout, Dick ^a   Koeleman, Bobby P C ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Benign Familial Neonatal Convulsions; BFNC; KCNQ2; Kv7.2; Loss of function

Indexed keywords

POTASSIUM CHANNEL KCNQ2;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CARBOXY TERMINAL SEQUENCE; CELL STRAIN HEK293; CELL SURFACE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ENDOPLASMIC RETICULUM; FEMALE; HETEROLOGOUS EXPRESSION; HETEROZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; POTASSIUM CURRENT; PRIORITY JOURNAL;

CELL LINE; CELL MEMBRANE; ENDOPLASMIC RETICULUM; EPILEPSY, BENIGN NEONATAL; FAMILY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GREEN FLUORESCENT PROTEINS; HUMANS; KCNQ2 POTASSIUM CHANNEL; KCNQ3 POTASSIUM CHANNEL; MEMBRANE POTENTIALS; MICROSCOPY, CONFOCAL; MICROSCOPY, FLUORESCENCE; MUTATION; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; POTASSIUM; TIME FACTORS; TRANSFECTION;

EID: 67650471424     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.06.064     Document Type: Article

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