Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Farhan, Sali M K

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. [electronic resource] - Epilepsia Sep 2014 - e106-11 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1528-1167

10.1111/epi.12730 doi


Adolescent
Ataxia--complications
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 7--genetics
Cysteine--genetics
Electroencephalography
Exome--genetics
Female
Genetic Linkage
Humans
Infant
Male
Mutation--genetics
Myoclonic Epilepsies, Progressive--complications
Potassium Channels--genetics
Tyrosine--genetics