title: Epilepsy phenotypes in siblings with Norrie disease.
abstract: Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.
authors.affiliation: Department of Pediatrics, Aichi Medical University, Japan; Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan. Electronic address: okumura.akihisa.479@mail.aichi-med-u.ac.jp.
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.affiliation: Department of Ophthalmology, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Eisuke
authors.initials: E
authors.lastname: Arai
authors.affiliation: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Kitamura
authors.affiliation: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Shinpei
authors.initials: S
authors.lastname: Abe
authors.affiliation: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Ikeno
authors.affiliation: Department of Ophthalmology, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Takuro
authors.initials: T
authors.lastname: Fujimaki
authors.affiliation: Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D041321:Chromosomes, Human, X; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D000077213:Lamotrigine; D000077287:Levetiracetam; D009419:Nerve Tissue Proteins / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010889:Piracetam / Q000031:analogs & derivatives / Q000627:therapeutic use; D012162:Retinal Degeneration; D035781:Siblings; D013036:Spasms, Infantile / Q000235:genetics*; D014227:Triazines / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D014227:Triazines; D000077287:Levetiracetam; D000077213:Lamotrigine; D010889:Piracetam
keywords: Electroencephalography; Epilepsy; NDP; Norrie disease