Results 101 to 108 of about 493 (108)

A RARE CASE OF KCTD7 MUTATION

National Journal of Neurology, 2021
S E Aliyeva, A K Mammadbayli
exaly  

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

Annals of Human Genetics, 2012
Christoph Schwarzer
exaly  

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Journal of Neurology, 2012
Tally Lerman-Sagie, Dorit Lev, Luba Blumkin   +2 more
exaly  

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia

Epilepsia, 2014
Sali Farhan, Asuri Prasad, Robert Hegele   +2 more
exaly  

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Annals of Neurology, 2018
Gérard Berry, Isabelle Coppens, Yaping Yang   +2 more
exaly  

Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms

Seizure: the Journal of the British Epilepsy Association, 2019
Changhong Ding, Fang Fang, Lifang Dai
exaly  

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature

Seizure: the Journal of the British Epilepsy Association
Hansashree Padmanabha, Gautham Arunachal, Jitender Saini   +2 more
exaly  

KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature

Epilepsia
Robyn Whitney, Vivek Jain, Ramshekhar N Menon   +2 more
exaly