Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

Annals of Human Genetics

Volumn 76, Issue 4, 2012, Pages 326-331

  Krabichler, Birgit ^a   Rostasy, Kevin ^a   Baumann, Matthias ^a   Karall, Daniela ^a   Scholl Bürgi, Sabine ^a   Schwarzer, Christoph ^a   Gautsch, Kurt ^a   Spreiz, Ana ^a   Kotzot, Dieter ^a   Zschocke, Johannes ^a   Fauth, Christine ^a   Haberlandt, Edda ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Children; KCTD7; Progressive myoclonic epilepsy

Indexed keywords

POTASSIUM CHANNEL TETRAMERIZATION DOMAIN CONTAINING 7; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS;

CHILD; CHROMOSOMES, HUMAN, PAIR 7; GENETIC LINKAGE; HUMANS; MALE; MUTATION, MISSENSE; MYOCLONIC EPILEPSIES, PROGRESSIVE; POTASSIUM CHANNELS;

EID: 84862133520     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2012.00710.x     Document Type: Article

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