Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

Annals of Neurology

Volumn 75, Issue 3, 2014, Pages 382-394

  Orhan, Gökce ^a   Bock, Merle ^a   Schepers, Dorien ^a,b   Ilina, Elena I ^a   Reichel, Stephanie Nadine ^a   Löffler, Heidi ^a   Jezutkovic, Nicole ^a   Weckhuysen, Sarah ^b,c,d   Mandelstam, Simone ^e,f   Suls, Arvid ^b,c   Danker, Timm ^g   Guenther, Elke ^g   Scheffer, Ingrid E ^e,f   De Jonghe, Peter ^b,c,h   Lerche, Holger ^a   Maljevic, Snezana ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d EPILEPSY CENTER KEMPENHAEGHE   (Netherlands)

^e FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; POTASSIUM CHANNEL KCNQ2; RETIGABINE;

ANIMAL CELL; ARTICLE; BIOTINYLATION; BRAIN DISEASE; CHILD; CHILDHOOD DISEASE; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTRIC POTENTIAL; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; NONHUMAN; OOCYTE; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; XENOPUS LAEVIS;

ANIMALS; CARBAMATES; EPILEPSY, BENIGN NEONATAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KCNQ2 POTASSIUM CHANNEL; MEMBRANE POTENTIALS; MUTATION, MISSENSE; OOCYTES; PHENYLENEDIAMINES; POTASSIUM CHANNELS, VOLTAGE-GATED; XENOPUS;

EID: 84897970738     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24080     Document Type: Article

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