Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
about
Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.Genetic and epigenetic mechanisms of epilepsy: a review.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
P2860
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
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Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@en
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@nl
type
label
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@en
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@nl
prefLabel
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@en
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@nl
P2093
P2860
P356
P1433
P1476
Linkage analysis and exome seq ...... yoclonus epilepsy with ataxia.
@en
P2093
Asuri N Prasad
C Anthony Rupar
FORGE Canada Consortium
John F Robinson
Lisa M Murphy
Sali M K Farhan
Victoria M Siu
P2860
P304
P356
10.1111/EPI.12730
P577
2014-07-24T00:00:00Z