Progressive myoclonic epilepsy with Fanconi syndrome.
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
Eleanor G
EG
Seaby
Wessex Regional Paediatric Nephro-Urology Service, Southampton Children's Hospital, Southampton SO16 6YD, UK; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.
Rodney D
RD
Gilbert
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
Reuben J
RJ
Pengelly
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
Gaia
G
Andreoletti
Department of Paediatric Neurology, St George's Hospital, London SW17 OQT, UK.
Antonia
A
Clarke
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
Sarah
S
Ennis
Fanconi syndrome; KCTD7; Progressive myoclonic epilepsy; exome; next generation sequencing; valproate