KCTD7

Gene name: potassium channel tetramerisation domain containing 7
OMIM ID: 611725
Chromosome location: 7q11.21

Mutations

Disease/Phenotype	Epilepsy, progressive myoclonic 3
Reference transcript	NM_153033.4
DNA Change	c.295C>T
A.A. Change	p.Arg99X
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Van Bogaert P, Azizieh R, D?sir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ.Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol. 2007 Jun;61(6):579-86.

---