Amish, Mennonite, and Hutterite
Genetic Disorder Database

Progressive myoclonus epilepsy with ataxia

Disorder
OMIM #: #611726  (Click to access OMIM database)
Disorder: Progressive myoclonus epilepsy with ataxia 
Also known as: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
EPM3 
Clinical
Phenotype: myoclonic seizures, tonic episodes, dysarthria, ataxia, impaired cognitive functions, motor and speech delay 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Colony Mennonite  
Gene: KCTD7
Base Change: A>G, at nucleotide 827
Amino Acid Change: tyr 276 --> cys
Last updated: 2018-07-20 

References
Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA. (2014) Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia Sep;55(9):e106-11.
PubMed ID: 25060828 
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. (2014) Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat Jan;35(1):45-9.
PubMed ID: 24108619 

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