Paper Details

Paper Title

Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy.

Paper Journal Title

J Neurogenet

Paper Citation Count

Paper Publication Year

2021

Bio Mention

KCTD7, KCTD7 variants, Kctd7, Kctd7 homozygous mutants, PME, c-fos, dysautonomia, epilepsy, kctd7, myoclonic seizures, myoclonus, neuroblastoma, neuroblastoma cells, neurological deterioration, non-annotated splicing junction, patients, potassium, potassium channel tetramerization domain-containing protein family, progressive myoclonic epilepsy, progressive myoclonus epilepsy, seizure, synonymous variant, variant alleles, zebrafish, zinc, zinc finger nucleases

Mesh Descriptor

Author Name	Affiliation
Liliana Fernandez	Center for Undiagnosed Diseases, Stanford University School of Medicine
Shruti Marwaha	Center for Undiagnosed Diseases, Stanford University School of Medicine
Laure Fr??sard	Stanford University School of Medicine
Stephen B Montgomery	Stanford University School of Medicine
Stephen B Montgomery	Stanford University School of Medicine
Stephen B Montgomery	Stanford University School of Medicine
Stephen B Montgomery	Stanford University School of Medicine
Gregory M Enns	Stanford University School of Medicine
Paul G Fisher	Center for Undiagnosed Diseases, Stanford University School of Medicine
Paul G Fisher	Stanford University School of Medicine
Paul G Fisher	Stanford University School of Medicine
Lynne A Wolfe	NIH and National Human Genome Research Institute
Lynne A Wolfe	NIH and National Human Genome Research Institute
Brian Harding	Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania
Abdel G Elkahloun	National Human Genome Research Institute
Camilo Toro	NIH and National Human Genome Research Institute
Matthew T Wheeler	Center for Undiagnosed Diseases, Stanford University School of Medicine
Matthew T Wheeler	Center for Undiagnosed Diseases, Stanford University School of Medicine
Thomas C Markello	NIH and National Human Genome Research Institute
William A Gahl	NIH and National Human Genome Research Institute
William A Gahl	National Human Genome Research Institute
William A Gahl	NIH and National Human Genome Research Institute
William A Gahl	National Human Genome Research Institute
May Christine V Malicdan	NIH and National Human Genome Research Institute
May Christine V Malicdan	NIH and National Human Genome Research Institute

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