title: Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
abstract: Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus, seizures and progressive neurological symptoms. The index patient was a 6-year old boy showing early-onset therapy resistant PME and severe developmental delay. Genome-wide linkage analysis identified several candidate regions. The potassium channel tetramerization domain containing 7 gene (KCTD7) in the 7q11.21 linkage region emerged as a suitable candidate. Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2. This is the second family with PME caused by KCTD7 mutations, hence KCTD7 mutations might be a recurrent cause of PME.
authors.affiliation: Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Krabichler
authors.forename: Kevin
authors.initials: K
authors.lastname: Rostasy
authors.forename: Matthias
authors.initials: M
authors.lastname: Baumann
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Bürgi
authors.forename: Christoph
authors.initials: C
authors.lastname: Schwarzer
authors.forename: Kurt
authors.initials: K
authors.lastname: Gautsch
authors.forename: Ana
authors.initials: A
authors.lastname: Spreiz
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Christine
authors.initials: C
authors.lastname: Fauth
authors.forename: Edda
authors.initials: E
authors.lastname: Haberlandt
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*
chemical_list: C522280:KCTD7 protein, human; D015221:Potassium Channels