A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

Movement Disorders

Volumn 24, Issue 5, 2009, Pages 778-782

  Demos, Michelle K ^a   Macri, Vincenzo ^b   Farrell, Kevin ^a   Nelson, Tanya N ^c   Chapman, Kristine ^d   Accili, Eric ^b   Armstrong, Linlea ^c  

^a BC CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^d VANCOUVER GENERAL HOSPITAL   (Canada)

Author keywords

Cerebellar atrophy; Cognitive dysfunction; EA1; KCNA1

Indexed keywords

CARBAMAZEPINE; LEUCINE; PHENYTOIN; POTASSIUM CHANNEL KV1.1; KCNA1 PROTEIN, HUMAN; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BODY POSTURE; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CLINICAL FEATURE; COGNITIVE DEFECT; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; LANGUAGE ABILITY; MALE; MOTOR PERFORMANCE; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MYOKYMIA; PERSISTENT CEREBELLAR DYSFUNCTION; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; VERTIGO; ANIMAL; CELL MEMBRANE POTENTIAL; CHO CELL; CRICETULUS; FEMALE; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HAMSTER; METHODOLOGY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADULT; ANIMALS; CEREBELLAR DISEASES; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KV1.1 POTASSIUM CHANNEL; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE POTENTIALS; MUTATION; TRANSFECTION; VALINE;

EID: 67651149713     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22467     Document Type: Article

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