A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

Neuropediatrics

Volumn 31, Issue 1, 2000, Pages 9-12

  Lee, W L ^a   Biervert, C ^b   Hallmann, K ^b   Tay, A ^a   Dean, J C S ^c   Steinlein, Ortrud K ^b  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b UNIVERSITY OF BONN   (Germany)

^c ABERDEEN ROYAL INFIRMARY   (United Kingdom)

Author keywords

Epilepsy; Gene mutation; Potassium channel

Indexed keywords

CLONAZEPAM; NUCLEOTIDE; PHENOBARBITAL; PHENYTOIN; POTASSIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 20Q; CHROMOSOME 8Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CONVULSION; EPILEPSY; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; INTRON; MALE; NEUROLOGIC DISEASE; NEWBORN DISEASE; ONSET AGE; PREDICTION; PRIORITY JOURNAL; RNA SPLICING; UNITED KINGDOM;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 20; EPILEPSY, BENIGN NEONATAL; GENES, DOMINANT; HUMANS; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; RNA SPLICING;

EID: 0034100615     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-15290     Document Type: Article

References (11)

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