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

Farhan, Sali M K; Murphy, Lisa M; Robinson, John F; Wang, Jian; Siu, Victoria M; Rupar, C Anthony; Prasad, Asuri N; Hegele, Robert A

Farhan, Sali M K; Murphy, Lisa M; Robinson, John F; Wang, Jian; Siu, Victoria M; Rupar, C Anthony; Prasad, Asuri N; Hegele, Robert A.

Affiliation

Farhan SM; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Epilepsia ; 55(9): e106-11, 2014 Sep.

Article in En | MEDLINE | ID: mdl-25060828

Subject(s)

Ataxia/genetics; Mutation/genetics; Myoclonic Epilepsies, Progressive/genetics; Potassium Channels/genetics; Adolescent; Ataxia/complications; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 7/genetics; Cysteine/genetics; Electroencephalography; Exome/genetics; Female; Genetic Linkage; Humans; Infant; Male; Myoclonic Epilepsies, Progressive/complications; Tyrosine/genetics

Key words

Epilepsy; KCTD7; Whole-exome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Potassium Channels / Myoclonic Epilepsies, Progressive / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Epilepsia Year: 2014 Type: Article Affiliation country: Canada

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