TY  -  
T1  - Dissection of the genetic background of childhood onset progressive myoclonic epilepsies 
SN  -  /  
UR  - URN:ISBN:978-952-10-7561-2; http://hdl.handle.net/10138/28690 
T3  -  
A1  - Kousi, Maria 
A2  -  
PB  - Helsingin yliopisto 
Y1  - 2012 
LA  - eng 
AB  - The progressive myoclonic epilepsies (PMEs) are a clinically and etiologically heterogeneous group of symptomatic epilepsies characterized by myoclonus, tonic-clonic seizures, psychomotor regression and ataxia. Different disorders have been classified as PMEs. Of these, the group of neuronal ceroid lipofuscinoses (NCLs) comprise an entity that has onset in childhood, being the most common cause of neurodegeneration in children. The primary aim of this thesis was to dissect the molecular genetic ... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - lääketieteellinen genetiikka 
N1  -   
PP  -  
ER  -