Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Neurology

Volumn 87, Issue 19, 2016, Pages 1975-1984

  Corbett, Mark A ^a   Bellows, Susannah T ^c   Li, Melody ^e   Carroll, Renée ^a   Micallef, Silvana ^c   Carvill, Gemma L ^f   Myers, Candace T ^f   Howell, Katherine B ^c,f,g   Maljevic, Snezana ^e,h   Lerche, Holger ⁱ   Gazina, Elena V ^e   Mefford, Heather C ^e   Bahlo, Melanie ^c,i   Berkovic, Samuel F ^c   Petrou, Steven ^c,e   Scheffer, Ingrid E ^d,e,f   Gecz, Jozef ^a,b  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

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

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^h UNIVERSITY OF TÜBINGEN   (Germany)

ⁱ WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CARBAMAZEPINE; CLOBAZAM; ETHOSUXIMIDE; LAMOTRIGINE; LEVETIRACETAM; PHENYTOIN; STIRIPENTOL; TRYPTAMINE DERIVATIVE; VALPROIC ACID; ZONISAMIDE; ANTICONVULSIVE AGENT; KCNA2 PROTEIN, HUMAN; POTASSIUM CHANNEL KV1.2;

ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; CHILD; CHILDHOOD ABSENCE EPILEPSY; CLINICAL ARTICLE; COMPUTER MODEL; DISEASE SEVERITY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EPISODIC ATAXIA; FEMALE; FOCAL EPILEPSY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOME; HUMAN; IN VITRO STUDY; INFANTILE SEIZURE; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR MODEL; MYOCLONUS EPILEPSY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SCN2A GENE; SEIZURE; TONIC SEIZURE; TREMOR; VERY ELDERLY; VOLTAGE CLAMP TECHNIQUE; VOLTAGE GATED POTASSIUM CHANNEL 2 GENE; YOUNG ADULT; ANIMAL; CHEMICAL MODEL; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETICS; INFANT; MEMBRANE POTENTIAL; MUTATION; OOCYTE; PHARMACOGENETICS; PRESCHOOL CHILD; XENOPUS LAEVIS;

AGED; ANIMALS; ANTICONVULSANTS; ATAXIA; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EPILEPSY; FAMILY HEALTH; FEMALE; HUMANS; INFANT; KV1.2 POTASSIUM CHANNEL; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MODELS, CHEMICAL; MUTATION; OOCYTES; PHARMACOGENETICS; XENOPUS LAEVIS; YOUNG ADULT;

EID: 84994874912     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000003309     Document Type: Article

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