TY  - GEN
AU  - Farhan,Sali M K
AU  - Murphy,Lisa M
AU  - Robinson,John F
AU  - Wang,Jian
AU  - Siu,Victoria M
AU  - Rupar,C Anthony
AU  - Prasad,Asuri N
AU  - Hegele,Robert A
TI  - Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
SN  - 1528-1167
PY  - 2014///1103
KW  - Adolescent
KW  - Ataxia
KW  - complications
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 7
KW  - genetics
KW  - Cysteine
KW  - Electroencephalography
KW  - Exome
KW  - Female
KW  - Genetic Linkage
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Myoclonic Epilepsies, Progressive
KW  - Potassium Channels
KW  - Tyrosine
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/epi.12730
ER  -