Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

Annals of Neurology

Volumn 48, Issue 4, 2000, Pages 647-656

  Eunson, L H ^a   Rea, R ^a   Zuberi, S M ^c   Youroukos, S ^b   Panayiotopoulos, C P ^b   Liguori, R ^d   Avoni, P ^d   McWilliam, R C ^c   Stephenson, J B P ^c   Hanna, M G ^a   Kullmann, D M ^a   Spauschus, A ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d Instituto di Neurologia Clinica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12P; CLINICAL ARTICLE; CLINICAL OBSERVATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HEART REPOLARIZATION; HEREDITARY ATAXIA; HUMAN; MALE; MULTIGENE FAMILY; MYOKYMIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FAMILY;

ACTION POTENTIALS; ADULT; CHILD, PRESCHOOL; FEMALE; HUMAN; MALE; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; SUPPORT, NON-U.S. GOV'T;

EID: 0033797135     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200010)48:4<647::AID-ANA12>3.0.CO;2-Q     Document Type: Article

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