A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Brain

Volumn 122, Issue 5, 1999, Pages 817-825

  Zuberi, S M ^a   Eunson, L H ^c   Spauschus, A ^c   De Silva, R ^b   Tolmie, J ^a   Wood, N W ^c   McWilliam, R C ^c   Stephenson, J P B ^c   Kullmann, D M ^c   Hanna, M G ^c  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Epilepsy; Episodic ataxia type 1; Potassium channel

Indexed keywords

ACETAZOLAMIDE; BLOCKING AGENT; CARBAMAZEPINE; CONVULSANT AGENT; NUCLEOTIDE; PHENOBARBITAL; POTASSIUM CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHROMOSOME 12P; ELECTROPHYSIOLOGY; FEMALE; FOCAL EPILEPSY; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MYOKYMIA; NERVE CELL EXCITABILITY; POINT MUTATION; PRIORITY JOURNAL; REPOLARIZATION;

EID: 0032895470     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.5.817     Document Type: Article

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