A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L Blumkin, S Kivity, D Lev, S Cohen, R Shomrat… - Journal of …, 2012 - Springer
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L Blumkin, S Kivity, D Lev, S Cohen… - Journal of …, 2012 - search.proquest.com
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
[引用][C] A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L BLUMKIN, S KIVITY, D LEV, S COHEN… - Journal of …, 2012 - pascal-francis.inist.fr
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting
as an opsoclonus-myoclonus ataxia-like syndrome CNRS Inist Pascal-Francis CNRS Pascal and …
as an opsoclonus-myoclonus ataxia-like syndrome CNRS Inist Pascal-Francis CNRS Pascal and …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L Blumkin, S Kivity, D Lev, S Cohen… - Journal of …, 2012 - pubmed.ncbi.nlm.nih.gov
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L Blumkin, S Kivity, D Lev, S Cohen, R Shomrat… - Journal of …, 2012 - infona.pl
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
L Blumkin, S Kivity, D Lev, S Cohen… - Journal of …, 2012 - search.ebscohost.com
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
L Blumkin, S Kivity, D Lev, S Cohen, R Shomrat… - Journal of …, 2012 - europepmc.org
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
[PDF][PDF] A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
L Blumkin, S Kivity, D Lev, S Cohen, R Shomrat… - J Neurol, 2012 - academia.edu
Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …