Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Epilepsy phenotypes in siblings with Norrie disease.

Brain & development - 1 Nov 2015

Okumura Akihisa, Arai Eisuke, Kitamura Yuri, Abe Shinpei, Ikeno Mitsuru, Fujimaki Takuro, Yamamoto Toshiyuki, Shimizu Toshiaki

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anticonvulsants
Share to Blindness
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lamotrigine

Share to Nervous System Diseases

Share to Retinal Degeneration

Share to Spasms, Infantile

Share to Triazines

Source

Identifiers

PMID: 25944760
DOI: 10.1016/j.braindev.2015.04.004

Genes

NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epilepsy phenotypes in siblings with Norrie disease.PMID 25944760Read ↗

Norrie disease: extraocular clinical manifestations in 56 patients.Semantic proximity Read ↗

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.Semantic proximity Read ↗

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.Semantic proximity Read ↗

A novel mutation in the Norrie disease gene.Semantic proximity Read ↗

Candidate Genes for Eyelid Myoclonia with Absences, Review of the LiteratureSemantic proximity Read ↗

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.Semantic proximity Read ↗

Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy.Semantic proximity Read ↗

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.Semantic proximity Read ↗

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.Semantic proximity Read ↗

Fazio-Londe syndrome in siblings from India with different phenotypes.Semantic proximity Read ↗

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.Semantic proximity Read ↗

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.